The paradox of cancer genes in non-malignant conditions: implications for precision medicine

citation_journal_title=Nat Rev Cancer; citation_title=Drugging the 'undruggable' cancer targets; citation_author=CV Dang, EP Reddy, KM Shokat, L Soucek; citation_volume=17; citation_publication_date=2017; citation_pages=502-508; citation_doi=10.1038/nrc.2017.36; citation_id=CR1 citation_journal_title=J Exp Clin Cancer Res; citation_title=Clinical development of targeted and immune based anti-cancer therapies; citation_author=NA Seebacher, AE Stacy, GM Porter, AM Merlot; citation_volume=38; citation_publication_date=2019; citation_pages=156; citation_doi=10.1186/s13046-019-1094-2; citation_id=CR2 citation_journal_title=J Invest Dermatol.; citation_title=BRAF mutations are common somatic events in melanocytic nevi; citation_author=R Kumar, S Angelini, E Snellman, K Hemminki; citation_volume=122; citation_publication_date=2004; citation_pages=342-348; citation_doi=10.1046/j.0022-202X.2004.22225.x; citation_id=CR3 citation_journal_title=Nat Genet; citation_title=High frequency of BRAF mutations in nevi; citation_author=PM Pollock, UL Harper, KS Hansen, LM Yudt, M Stark, CM Robbins; citation_volume=33; citation_publication_date=2003; citation_pages=19-20; citation_doi=10.1038/ng1054; citation_id=CR4 citation_journal_title=Lancet.; citation_title=Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial; citation_author=GS Falchook, GV Long, R Kurzrock, KB Kim, TH Arkenau, MP Brown; citation_volume=379; citation_publication_date=2012; citation_pages=1893-1901; citation_doi=10.1016/S0140-6736(12)60398-5; citation_id=CR5 citation_journal_title=JAMA Dermatol.; citation_title=Involution of eruptive melanocytic nevi on combination BRAF and MEK inhibitor therapy; citation_author=FW Chen, D Tseng, S Reddy, AI Daud, SM Swetter; citation_volume=150; citation_publication_date=2014; citation_pages=1209-1212; citation_doi=10.1001/jamadermatol.2014.838; citation_id=CR6 citation_journal_title=Clin Cancer Res; citation_title=Bridging the gap between preclinical and clinical studies using pharmacokinetic-pharmacodynamic modeling: an analysis of GDC-0973, a MEK inhibitor; citation_author=H Wong, L Vernillet, A Peterson, JA Ware, L Lee, JF Martini; citation_volume=18; citation_publication_date=2012; citation_pages=3090-3099; citation_doi=10.1158/1078-0432.CCR-12-0445; citation_id=CR7 citation_journal_title=J Eur Acad Dermatol Venereol; citation_title=BRAF mutational epidemiology in dysplastic nevi: does different solar UV radiation exposure matter?; citation_author=M Saroufim, M Novy, S Taraif, RH Habib, A Loya, B Rauscher; citation_volume=28; citation_publication_date=2014; citation_pages=615-625; citation_doi=10.1111/jdv.12148; citation_id=CR8 citation_journal_title=JAMA Dermatol; citation_title=BRAFV600E mutation status of involuting and stable nevi in dabrafenib therapy with or without trametinib; citation_author=P McClenahan, LL Lin, JM Tan, R Flewell-Smith, H Schaider, K Jagirdar; citation_volume=150; citation_publication_date=2014; citation_pages=1079-1082; citation_doi=10.1001/jamadermatol.2014.436; citation_id=CR9 citation_journal_title=Melanoma Res; citation_title=BRAF and NRAS mutations in melanoma and melanocytic nevi; citation_author=JN Poynter, JT Elder, DR Fullen, RP Nair, MS Soengas, TM Johnson; citation_volume=16; citation_publication_date=2006; citation_pages=267-273; citation_doi=10.1097/01.cmr.0000222600.73179.f3; citation_id=CR10 citation_journal_title=PLoS One; citation_title=NRAS and BRAF mutations in melanoma-associated nevi and uninvolved nevi; citation_author=P Tschandl, AS Berghoff, M Preusser, S Burgstaller-Muehlbacher, H Pehamberger, I Okamoto, H Kittler; citation_volume=8; citation_publication_date=2013; citation_doi=10.1371/journal.pone.0069639; citation_id=CR11 citation_journal_title=Actas Dermosifiliogr; citation_title=Congenital melanocytic nevus syndrome: a case series; citation_author=A Recio, AI Sánchez-Moya, V Félix, Y Campos; citation_volume=108; citation_publication_date=2017; citation_pages=e57-e62; citation_doi=10.1016/j.ad.2016.07.025; citation_id=CR12 citation_journal_title=Cancer Treat Rev; citation_title=Targeting the Wnt/beta-catenin pathway in cancer: update on effectors and inhibitors; citation_author=N Krishnamurthy, R Kurzrock; citation_volume=62; citation_publication_date=2018; citation_pages=50-60; citation_doi=10.1016/j.ctrv.2017.11.002; citation_id=CR13 citation_journal_title=N Engl J Med; citation_title=Sorafenib for advanced and refractory desmoid tumors; citation_author=MM Gounder, MR Mahoney, BA Van Tine, V Ravi, S Attia, HA Deshpande; citation_volume=379; citation_publication_date=2018; citation_pages=2417-2428; citation_doi=10.1056/NEJMoa1805052; citation_id=CR14 citation_journal_title=Leukemia.; citation_title=Signal transduction mediated by the Ras/Raf/MEK/ERK pathway from cytokine receptors to transcription factors: potential targeting for therapeutic intervention; citation_author=F Chang, LS Steelman, JT Lee, JG Shelton, PM Navolanic, WL Blalock; citation_volume=17; citation_publication_date=2003; citation_pages=1263-1293; citation_doi=10.1038/sj.leu.2402945; citation_id=CR15 citation_journal_title=Journal of Clinical Oncology; citation_title=A phase 1 study of LOXO-292, a potent and highly selective RET inhibitor, in patients with RET-altered cancers; citation_author=Alexander E. Drilon, Vivek Subbiah, Geoffrey R. Oxnard, Todd Michael Bauer, Vamsidhar Velcheti, Nehal J. Lakhani, Benjamin Besse, Keunchil Park, Jyoti D. Patel, Maria E. Cabanillas, Melissa Lynne Johnson, Karen L. Reckamp, Valentina Boni, Herbert H. F. Loong, Martin Schlumberger, Ben Solomon, Scott Cruickshank, Stephen M. Rothenberg, Manisha H. Shah, Lori J. Wirth; citation_volume=36; citation_issue=15_suppl; citation_publication_date=2018; citation_pages=102-102; citation_doi=10.1200/JCO.2018.36.15_suppl.102; citation_id=CR16 citation_journal_title=J Invest Dermatol.; citation_title=Congenital melanocytic nevi frequently harbor NRAS mutations but no BRAF mutations; citation_author=J Bauer, JA Curtin, D Pinkel, BC Bastian; citation_volume=127; citation_publication_date=2007; citation_pages=179-182; citation_doi=10.1038/sj.jid.5700490; citation_id=CR17 citation_journal_title=J Invest Dermatol.; citation_title=NRAS mutation is the sole recurrent somatic mutation in large congenital melanocytic nevi; citation_author=C Charbel, RH Fontaine, GG Malouf, A Picard, N Kadlub, A How-Kit; citation_volume=134; citation_publication_date=2014; citation_pages=1067-1074; citation_doi=10.1038/jid.2013.429; citation_id=CR18 citation_journal_title=Mod Pathol; citation_title=FGFR3 mutations in seborrheic keratoses are already present in flat lesions and associated with age and localization; citation_author=C Hafner, A Hartmann, JM van Oers, R Stoehr, EC Zwarthoff, F Hofstaedter; citation_volume=20; citation_publication_date=2007; citation_pages=895-903; citation_doi=10.1038/modpathol.3800837; citation_id=CR19 citation_journal_title=Proc Natl Acad Sci U S A; citation_title=Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern; citation_author=C Hafner, E Lopez-Knowles, NM Luis, A Toll, E Baselga, A Fernández-Casado; citation_volume=104; citation_publication_date=2007; citation_pages=13450-13454; citation_doi=10.1073/pnas.0705218104; citation_id=CR20 citation_journal_title=J Invest Dermatol; citation_title=High frequency of FGFR3 mutations in adenoid seborrheic keratoses; citation_author=C Hafner, JM van Oers, A Hartmann, M Landthaler, R Stoehr, H Blaszyk; citation_volume=126; citation_publication_date=2006; citation_pages=2404-2407; citation_doi=10.1038/sj.jid.5700422; citation_id=CR21 citation_journal_title=Br J Dermatol; citation_title=Activation of fibroblast growth factor receptor 3 and oncogene-induced senescence in skin tumours; citation_author=Y Hida, Y Kubo, S Arase; citation_volume=160; citation_publication_date=2009; citation_pages=1258-1263; citation_doi=10.1111/j.1365-2133.2009.09068.x; citation_id=CR22 citation_journal_title=J Clin Oncol; citation_title=Phase I dose-escalation study of JNJ-42756493, an oral pan-fibroblast growth factor receptor inhibitor, in patients with advanced solid tumors; citation_author=J Tabernero, R Bahleda, R Dienstmann, JR Infante, A Mita, A Italiano; citation_volume=33; citation_publication_date=2015; citation_pages=3401-3408; citation_doi=10.1200/JCO.2014.60.7341; citation_id=CR23 citation_journal_title=Carcinogenesis.; citation_title=Fibroblast growth factor-2-mediated FGFR/Erk signaling supports maintenance of cancer stem-like cells in esophageal squamous cell carcinoma; citation_author=O Maehara, G Suda, M Natsuizaka, S Ohnishi, Y Komatsu, F Sato; citation_volume=38; citation_publication_date=2017; citation_pages=1073-1083; citation_doi=10.1093/carcin/bgx095; citation_id=CR24 citation_journal_title=J Clin Invest; citation_title=Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi; citation_author=C Hafner, JM van Oers, T Vogt, M Landthaler, R Stoehr, H Blaszyk; citation_volume=116; citation_publication_date=2006; citation_pages=2201-2207; citation_doi=10.1172/JCI28163; citation_id=CR25 citation_journal_title=Bioorg Med Chem Lett; citation_title=Discovery of NVP-BYL719 a potent and selective phosphatidylinositol-3 kinase alpha inhibitor selected for clinical evaluation; citation_author=P Furet, V Guagnano, RA Fairhurst, P Imbach-Weese, I Bruce, M Knapp; citation_volume=23; citation_publication_date=2013; citation_pages=3741-3748; citation_doi=10.1016/j.bmcl.2013.05.007; citation_id=CR26 citation_journal_title=N Engl J Med; citation_title=Cancer-associated mutations in endometriosis without cancer; citation_author=MS Anglesio, N Papadopoulos, A Ayhan, TM Nazeran, M Noë, HM Horlings; citation_volume=376; citation_publication_date=2017; citation_pages=1835-1848; citation_doi=10.1056/NEJMoa1614814; citation_id=CR27 citation_journal_title=Science; citation_title=RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues; citation_author=Keren Yizhak, François Aguet, Jaegil Kim, Julian M. Hess, Kirsten Kübler, Jonna Grimsby, Ruslana Frazer, Hailei Zhang, Nicholas J. Haradhvala, Daniel Rosebrock, Dimitri Livitz, Xiao Li, Eila Arich-Landkof, Noam Shoresh, Chip Stewart, Ayellet V. Segrè, Philip A. Branton, Paz Polak, Kristin G. Ardlie, Gad Getz; citation_volume=364; citation_issue=6444; citation_publication_date=2019; citation_pages=eaaw0726; citation_doi=10.1126/science.aaw0726; citation_id=CR28 citation_journal_title=Am J Pathol; citation_title=TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors; citation_author=B Lawrence, A Perez-Atayde, MK Hibbard, BP Rubin, P Dal Cin, JL Pinkus; citation_volume=157; citation_publication_date=2000; citation_pages=377-384; citation_doi=10.1016/S0002-9440(10)64550-6; citation_id=CR29 citation_journal_title=N Engl J Med; citation_title=Crizotinib in ALK-rearranged inflammatory myofibroblastic tumor; citation_author=JE Butrynski, DR D'Adamo, JL Hornick, P Dal Cin, CR Antonescu, SC Jhanwar; citation_volume=363; citation_publication_date=2010; citation_pages=1727-1733; citation_doi=10.1056/NEJMoa1007056; citation_id=CR30 citation_journal_title=Cancer Cell; citation_title=CH5424802, a selective ALK inhibitor capable of blocking the resistant gatekeeper mutant; citation_author=H Sakamoto, T Tsukaguchi, S Hiroshima, T Kodama, T Kobayashi, TA Fukami; citation_volume=19; citation_publication_date=2011; citation_pages=679-690; citation_doi=10.1016/j.ccr.2011.04.004; citation_id=CR31 citation_journal_title=Oncogene.; citation_title=Activated ALK signals through the ERK-ETV5-RET pathway to drive neuroblastoma oncogenesis; citation_author=L Lopez-Delisle, C Pierre-Eugene, C Louis-Brennetot, D Surdez, V Raynal, S Baulande; citation_volume=37; citation_publication_date=2018; citation_pages=1417-1429; citation_doi=10.1038/s41388-017-0039-5; citation_id=CR32 citation_journal_title=Science.; citation_title=Somatic mutant clones colonize the human esophagus with age; citation_author=I Martincorena, JC Fowler, A Wabik, ARJ Lawson, F Abascal, MWJ Hall; citation_volume=362; citation_publication_date=2018; citation_pages=911-917; citation_doi=10.1126/science.aau3879; citation_id=CR33 citation_journal_title=Oncotarget.; citation_title=NOTCH1 activates the Wnt/beta-catenin signaling pathway in colon cancer; citation_author=H Ishiguro, T Okubo, Y Kuwabara, M Kimura, A Mitsui, N Sugito; citation_volume=8; citation_publication_date=2017; citation_pages=60378-60389; citation_doi=10.18632/oncotarget.19534; citation_id=CR34 citation_journal_title=N Engl J Med; citation_title=Somatic activating KRAS mutations in arteriovenous malformations of the brain; citation_author=SI Nikolaev, S Vetiska, X Bonilla, E Boudreau, S Jauhiainen, B Rezai Jahromi; citation_volume=378; citation_publication_date=2018; citation_pages=250-261; citation_doi=10.1056/NEJMoa1709449; citation_id=CR35 citation_journal_title=World Neurosurg; citation_title=KRAS G12D or G12V mutation in human brain arteriovenous malformations; citation_author=M Oka, M Kushamae, T Aoki, T Yamaguchi, K Kitazato, Y Abekura; citation_volume=126; citation_publication_date=2019; citation_pages=e1365-e1373; citation_doi=10.1016/j.wneu.2019.03.105; citation_id=CR36 citation_journal_title=Proc Natl Acad Sci U S A; citation_title=Somatic mutations in the p53 tumor suppressor gene in rheumatoid arthritis synovium; citation_author=GS Firestein, F Echeverri, M Yeo, NJ Zvaifler, DR Green; citation_volume=94; citation_publication_date=1997; citation_pages=10895-10900; citation_doi=10.1073/pnas.94.20.10895; citation_id=CR37 citation_journal_title=Hum Mutat; citation_title=Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database; citation_author=A Petitjean, E Mathe, S Kato, C Ishioka, SV Tavtigian, P Hainaut, M Olivier; citation_volume=28; citation_publication_date=2007; citation_pages=622-629; citation_doi=10.1002/humu.20495; citation_id=CR38 citation_journal_title=Cancer Res; citation_title=VEGF-A expression correlates with TP53 mutations in non-small cell lung cancer: implications for antiangiogenesis therapy; citation_author=M Schwaederle, V Lazar, P Validire, J Hansson, L Lacroix, JC Soria; citation_volume=75; citation_publication_date=2015; citation_pages=1187-1190; citation_doi=10.1158/0008-5472.CAN-14-2305; citation_id=CR39 citation_journal_title=Oncogene.; citation_title=The p53 pathway: positive and negative feedback loops; citation_author=SL Harris, AJ Levine; citation_volume=24; citation_publication_date=2005; citation_pages=2899-2908; citation_doi=10.1038/sj.onc.1208615; citation_id=CR40 citation_journal_title=Mod Pathol; citation_title=CTNNB1 mutation analysis is a useful tool for the diagnosis of desmoid tumors: a study of 260 desmoid tumors and 191 potential morphologic mimics; citation_author=S Le Guellec, I Soubeyran, P Rochaix, T Filleron, A Neuville, I Hostein, JM Coindre; citation_volume=25; citation_publication_date=2012; citation_pages=1551-1558; citation_doi=10.1038/modpathol.2012.115; citation_id=CR41 citation_journal_title=Cancer Biol Ther; citation_title=Effective treatment of aggressive fibromatosis with celecoxib guided by genetic testing; citation_author=S Yang, X Wang, H Jiang, Y Wang, Z Li, H Lu; citation_volume=18; citation_publication_date=2017; citation_pages=757-760; citation_doi=10.1080/15384047.2017.1373215; citation_id=CR42 citation_journal_title=J Med Chem; citation_title=Synthesis and biological evaluation of the 1,5-diarylpyrazole class of cyclooxygenase-2 inhibitors: identification of 4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl] benze nesulfonamide (SC-58635, celecoxib); citation_author=TD Penning, JJ Talley, SR Bertenshaw, JS Carter, PW Collins, S Docter; citation_volume=40; citation_publication_date=1997; citation_pages=1347-1365; citation_doi=10.1021/jm960803q; citation_id=CR43 citation_journal_title=Clin Cancer Res; citation_title=Wnt-pathway activation in two molecular classes of hepatocellular carcinoma and experimental modulation by sorafenib; citation_author=A Lachenmayer, C Alsinet, R Savic, L Cabellos, S Toffanin, Y Hoshida; citation_volume=18; citation_publication_date=2012; citation_pages=4997-5007; citation_doi=10.1158/1078-0432.CCR-11-2322; citation_id=CR44 citation_journal_title=World J Stem Cells; citation_title=Gene expression and pathway analysis of CTNNB1 in cancer and stem cells; citation_author=S Tanabe, T Kawabata, K Aoyagi, H Yokozaki, H Sasaki; citation_volume=8; citation_publication_date=2016; citation_pages=384-395; citation_doi=10.4252/wjsc.v8.i11.384; citation_id=CR45 citation_journal_title=J Invest Dermatol.; citation_title=Somatic embryonic FGFR2 mutations in keratinocytic epidermal nevi; citation_author=A Toll, LC Fernandez, T Pons, L Groesser, A Sagrera, E Carrillo-de Santa Pau; citation_volume=136; citation_publication_date=2016; citation_pages=1718-1721; citation_doi=10.1016/j.jid.2016.03.040; citation_id=CR46 citation_journal_title=Nat Commun; citation_title=Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation; citation_author=JS Park, J Lee, ES Jung, MH Kim, IB Kim, H Son; citation_volume=10; citation_publication_date=2019; citation_pages=3090; citation_doi=10.1038/s41467-019-11000-7; citation_id=CR47 citation_journal_title=Appl Clin Genet; citation_title=The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management; citation_author=ML Leoz, S Carballal, L Moreira, T Ocaña, F Balaguer; citation_volume=8; citation_publication_date=2015; citation_pages=95-107; citation_id=CR48 Jasperson KW, Patel SG, Ahnen DJ. APC-associated polyposis conditions. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews. Seattle: University of Washington; 1998. citation_journal_title=Dis Colon Rectum; citation_title=Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study; citation_author=MH Nieuwenhuis, JH Lefevre, S Bulow, H Järvinen, L Bertario, S Kernéis; citation_volume=54; citation_publication_date=2011; citation_pages=1229-1234; citation_doi=10.1097/DCR.0b013e318227e4e8; citation_id=CR50 citation_journal_title=Nat Med; citation_title=ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor; citation_author=D Li, ME March, A Gutierrez-Uzquiza, C Kao, C Seiler, E Pinto; citation_volume=25; citation_publication_date=2019; citation_pages=1116-1122; citation_doi=10.1038/s41591-019-0479-2; citation_id=CR51 citation_journal_title=Hum Mol Genet; citation_title=Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly; citation_author=D Li, TL Wenger, C Seiler, ME March, A Gutierrez-Uzquiza, C Kao; citation_volume=27; citation_publication_date=2018; citation_pages=3233-3245; citation_doi=10.1093/hmg/ddy218; citation_id=CR52 citation_journal_title=Pediatrics; citation_title=A Case of a Central Conducting Lymphatic Anomaly Responsive to Sirolimus; citation_author=Andrew McCormick, Stacy Rosenberg, Katherine Tier, Arcangela Balest; citation_volume=137; citation_issue=1; citation_publication_date=2015; citation_pages=e20152694; citation_doi=10.1542/peds.2015-2694; citation_id=CR53 citation_title=Cardiofaciocutaneous syndrome; citation_inbook_title=GeneReviews; citation_publication_date=2007; citation_id=CR54; citation_author=KA Rauen; citation_publisher=University of Washington citation_journal_title=Br J Cancer; citation_title=Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes; citation_author=CP Kratz, L Franke, H Peters, N Kohlschmidt, B Kazmierczak, U Finckh; citation_volume=112; citation_publication_date=2015; citation_pages=1392-1397; citation_doi=10.1038/bjc.2015.75; citation_id=CR55 citation_journal_title=Saudi J Biol Sci; citation_title=BRAF gene: from human cancers to developmental syndromes; citation_author=MR Hussain, M Baig, HS Mohamoud, Z Ulhaq, DC Hoessli, GS Khogeer; citation_volume=22; citation_publication_date=2015; citation_pages=359-373; citation_doi=10.1016/j.sjbs.2014.10.002; citation_id=CR56 citation_journal_title=Hum Mutat; citation_title=Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum; citation_author=A Sarkozy, C Carta, S Moretti, G Zampino, MC Digilio, F Pantaleoni; citation_volume=30; citation_publication_date=2009; citation_pages=695-702; citation_doi=10.1002/humu.20955; citation_id=CR57 citation_journal_title=Am J Hum Genet; citation_title=ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19; citation_author=Y Takahashi, Y Fukuda, J Yoshimura, A Toyoda, K Kurppa, H Moritoyo; citation_volume=93; citation_publication_date=2013; citation_pages=900-905; citation_doi=10.1016/j.ajhg.2013.09.008; citation_id=CR58 citation_journal_title=Clin Cancer Res; citation_title=A phase I study with neratinib (HKI-272), an irreversible pan ErbB receptor tyrosine kinase inhibitor, in patients with solid tumors; citation_author=KK Wong, PM Fracasso, RM Bukowski, TJ Lynch, PN Munster, GI Shapiro; citation_volume=15; citation_publication_date=2009; citation_pages=2552-2558; citation_doi=10.1158/1078-0432.CCR-08-1978; citation_id=CR59 citation_journal_title=Hum Genome Var; citation_title=Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome; citation_author=M Takagi, T Miyoshi, Y Nagashima, N Shibata, H Yagi, R Fukuzawa, T Hasegawa; citation_volume=3; citation_publication_date=2016; citation_pages=16034; citation_doi=10.1038/hgv.2016.34; citation_id=CR60 citation_journal_title=Fertil Steril; citation_title=Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform; citation_author=C Gonçalves, M Bastos, D Pignatelli, T Borges, JM Aragüés, F Fonseca; citation_volume=104; citation_publication_date=2015; citation_pages=1261-1267; citation_doi=10.1016/j.fertnstert.2015.07.1142; citation_id=CR61 citation_journal_title=J Craniofac Surg; citation_title=FGFR1 and FGFR2 mutations in Pfeiffer syndrome; citation_author=C Chokdeemboon, C Mahatumarat, N Rojvachiranonda, S Tongkobpetch, K Suphapeetiporn, V Shotelersuk; citation_volume=24; citation_publication_date=2013; citation_pages=150-152; citation_doi=10.1097/SCS.0b013e3182646454; citation_id=CR62 citation_journal_title=Hum Mutat; citation_title=Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily; citation_author=EG Bochukova, T Roscioli, DJ Hedges, IB Taylor, D Johnson, DJ David; citation_volume=30; citation_publication_date=2009; citation_pages=204-211; citation_doi=10.1002/humu.20825; citation_id=CR63 citation_journal_title=JAMA Oncology; citation_title=Association Between Birth Defects and Cancer Risk Among Children and Adolescents in a Population-Based Assessment of 10 Million Live Births; citation_author=Philip J. Lupo, Jeremy M. Schraw, Tania A. Desrosiers, Wendy N. Nembhard, Peter H. Langlois, Mark A. Canfield, Glenn Copeland, Robert E. Meyer, Austin L. Brown, Tiffany M. Chambers, Pagna Sok, Heather E. Danysh, Susan E. Carozza, Saumya D. Sisoudiya, Susan G. Hilsenbeck, Amanda E. Janitz, Matthew E. Oster, Angela E. Scheuerle, Joshua D. Schiffman, Chunqiao Luo, Amir Mian, Beth A. Mueller, Chad D. Huff, Sonja A. Rasmussen, Michael E. Scheurer, Sharon E. Plon; citation_volume=5; citation_issue=8; citation_publication_date=2019; citation_pages=1150; citation_doi=10.1001/jamaoncol.2019.1215; citation_id=CR64 citation_journal_title=Nat Genet; citation_title=Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome; citation_author=KA Przylepa, W Paznekas, M Zhang, M Golabi, W Bias, MJ Bamshad; citation_volume=13; citation_publication_date=1996; citation_pages=492-494; citation_doi=10.1038/ng0896-492; citation_id=CR65 citation_journal_title=Am J Hum Genet; citation_title=Achondroplasia is defined by recurrent G380R mutations of FGFR3; citation_author=GA Bellus, TW Hefferon, RI Ortiz de Luna, JT Hecht, WA Horton, M Machado; citation_volume=56; citation_publication_date=1995; citation_pages=368-373; citation_id=CR66 citation_journal_title=Hum Mol Genet; citation_title=A common FGFR3 gene mutation in hypochondroplasia; citation_author=P Prinos, T Costa, A Sommer, MW Kilpatrick, P Tsipouras; citation_volume=4; citation_publication_date=1995; citation_pages=2097-2101; citation_doi=10.1093/hmg/4.11.2097; citation_id=CR67 citation_journal_title=Mol Cell Biol; citation_title=Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway; citation_author=I Shams, E Rohmann, VP Eswarakumar, ED Lew, S Yuzawa, B Wollnik; citation_volume=27; citation_publication_date=2007; citation_pages=6903-6912; citation_doi=10.1128/MCB.00544-07; citation_id=CR68 citation_title=Muenke syndrome; citation_inbook_title=GeneReviews; citation_publication_date=2006; citation_id=CR69; citation_author=P Kruszka; citation_author=YA Addissie; citation_author=NB Agochukwu; citation_author=ES Doherty; citation_author=M Muenke; citation_publisher=University of Washington citation_journal_title=Am J Med Genet A; citation_title=Thanatophoric dysplasia caused by double missense FGFR3 mutations; citation_author=S Pannier, J Martinovic, S Heuertz, AL Delezoide, A Munnich, L Schibler; citation_volume=149A; citation_publication_date=2009; citation_pages=1296-1301; citation_doi=10.1002/ajmg.a.32880; citation_id=CR70 citation_journal_title=Hum Mol Genet; citation_title=A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia; citation_author=M Jin, Y Yu, H Qi, Y Xie, N Su, X Wang; citation_volume=21; citation_publication_date=2012; citation_pages=5443-5455; citation_doi=10.1093/hmg/dds390; citation_id=CR71 citation_title=Fibrous dysplasia/McCune-Albright Syndrome; citation_inbook_title=GeneReviews; citation_publication_date=2015; citation_id=CR72; citation_author=AM Boyce; citation_author=P Florenzano; citation_author=LF de Castro; citation_author=MT Collins; citation_publisher=University of Washington citation_journal_title=Orphanet J Rare Dis; citation_title=McCune-Albright syndrome; citation_author=CE Dumitrescu, MT Collins; citation_volume=3; citation_publication_date=2008; citation_pages=12; citation_doi=10.1186/1750-1172-3-12; citation_id=CR73 citation_journal_title=Clin Cancer Res; citation_title=Combination small molecule MEK and PI3K inhibition enhances uveal melanoma cell death in a mutant GNAQ- and GNA11-dependent manner; citation_author=JS Khalili, X Yu, J Wang, BC Hayes, MA Davies, G Lizee; citation_volume=18; citation_publication_date=2012; citation_pages=4345-4355; citation_doi=10.1158/1078-0432.CCR-11-3227; citation_id=CR74 citation_journal_title=Lancet Oncol; citation_title=Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial; citation_author=GS Falchook, KD Lewis, JR Infante, MS Gordon, NJ Vogelzang, DJ DeMarini; citation_volume=13; citation_publication_date=2012; citation_pages=782-789; citation_doi=10.1016/S1470-2045(12)70269-3; citation_id=CR75 citation_journal_title=Oncotarget.; citation_title=Mutant HRAS as novel target for MEK and mTOR inhibitors; citation_author=MK Kiessling, A Curioni-Fontecedro, P Samaras, K Atrott, J Cosin-Roger, S Lang; citation_volume=6; citation_publication_date=2015; citation_pages=42183-42196; citation_doi=10.18632/oncotarget.5619; citation_id=CR76 citation_journal_title=Science.; citation_title=IDH2 mutations in patients with D-2-hydroxyglutaric aciduria; citation_author=M Kranendijk, EA Struys, E van Schaftingen, KM Gibson, WA Kanhai, MS van der Knaap; citation_volume=330; citation_publication_date=2010; citation_pages=336; citation_doi=10.1126/science.1192632; citation_id=CR77 citation_journal_title=J Inherit Metab Dis; citation_title=Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria; citation_author=Z Patay, BA Orr, BL Shulkin, SN Hwang, Y Ying, A Broniscer; citation_volume=38; citation_publication_date=2015; citation_pages=273-277; citation_doi=10.1007/s10545-014-9782-8; citation_id=CR78 citation_journal_title=Cancer Discov; citation_title=AG-221, a first-in-class therapy targeting acute myeloid leukemia harboring oncogenic IDH2 mutations; citation_author=K Yen, J Travins, F Wang, MD David, E Artin, K Straley; citation_volume=7; citation_publication_date=2017; citation_pages=478-493; citation_doi=10.1158/2159-8290.CD-16-1034; citation_id=CR79 citation_journal_title=Mol Genet Genomic Med; citation_title=JAK3 mutations in Italian patients affected by SCID: new molecular aspects of a long-known gene; citation_author=G Di Matteo, M Chiriaco, A Scarselli, C Cifaldi, S Livadiotti, S Di Cesare; citation_volume=6; citation_publication_date=2018; citation_pages=713-721; citation_doi=10.1002/mgg3.391; citation_id=CR80 citation_journal_title=Science.; citation_title=Prevention of organ allograft rejection by a specific Janus kinase 3 inhibitor; citation_author=PS Changelian, ME Flanagan, DJ Ball, CR Kent, KS Magnuson, WH Martin; citation_volume=302; citation_publication_date=2003; citation_pages=875-878; citation_doi=10.1126/science.1087061; citation_id=CR81 citation_journal_title=Nat Genet; citation_title=Germline KRAS mutations cause Noonan syndrome; citation_author=S Schubbert, M Zenker, SL Rowe, S Böll, C Klein, G Bollag; citation_volume=38; citation_publication_date=2006; citation_pages=331-336; citation_doi=10.1038/ng1748; citation_id=CR82 citation_journal_title=Cell Rep; citation_title=Intrinsic resistance to MEK inhibition in KRAS mutant lung and colon cancer through transcriptional induction of ERBB3; citation_author=C Sun, S Hobor, A Bertotti, D Zecchin, S Huang, F Galimi; citation_volume=7; citation_publication_date=2014; citation_pages=86-93; citation_doi=10.1016/j.celrep.2014.02.045; citation_id=CR83 citation_journal_title=J Med Genet; citation_title=A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss; citation_author=G Mujtaba, JM Schultz, A Imtiaz, RJ Morell, TB Friedman, S Naz; citation_volume=52; citation_publication_date=2015; citation_pages=548-552; citation_doi=10.1136/jmedgenet-2015-103023; citation_id=CR84 citation_journal_title=J Clin Oncol; citation_title=Activity of XL184 (Cabozantinib), an oral tyrosine kinase inhibitor, in patients with medullary thyroid cancer; citation_author=R Kurzrock, SI Sherman, DW Ball, AA Forastiere, RB Cohen, R Mehra; citation_volume=29; citation_publication_date=2011; citation_pages=2660-2666; citation_doi=10.1200/JCO.2010.32.4145; citation_id=CR85 citation_journal_title=Am J Hum Genet; citation_title=Mutations in NOTCH1 cause Adams-Oliver syndrome; citation_author=AB Stittrich, A Lehman, DL Bodian, J Ashworth, Z Zong, H Li; citation_volume=95; citation_publication_date=2014; citation_pages=275-284; citation_doi=10.1016/j.ajhg.2014.07.011; citation_id=CR86 citation_journal_title=Ann Oncol; citation_title=First-in-human study of LY3039478, an oral notch signaling inhibitor in advanced or metastatic cancer; citation_author=C Massard, A Azaro, JC Soria, U Lassen, C Le Tourneau, D Sarker; citation_volume=29; citation_publication_date=2018; citation_pages=1911-1917; citation_doi=10.1093/annonc/mdy244; citation_id=CR87 citation_journal_title=J Med Genet; citation_title=Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients; citation_author=E Ars, H Kruyer, M Morell, E Pros, E Serra, A Ravella; citation_volume=40; citation_publication_date=2003; citation_doi=10.1136/jmg.40.6.e82; citation_id=CR88 citation_journal_title=Oncotarget.; citation_title=NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations; citation_author=RD Schroeder, LS Angelo, R Kurzrock; citation_volume=5; citation_publication_date=2014; citation_pages=67-77; citation_doi=10.18632/oncotarget.1557; citation_id=CR89 citation_title=Neurofibromatosis 1; citation_inbook_title=GeneReviews; citation_publication_date=1998; citation_id=CR90; citation_author=JM Friedman; citation_publisher=University of Washington citation_journal_title=Ecancermedicalscience.; citation_title=Quick and sustained clinical response to MEK inhibitor I in a NF1 patient with neurofibromas; citation_author=H Papalia, F Audic, GR Riviere, A Verschuur, N André; citation_volume=12; citation_publication_date=2018; citation_pages=862; citation_doi=10.3332/ecancer.2018.862; citation_id=CR91 citation_journal_title=Journal of Clinical Oncology; citation_title=SPRINT: Phase II study of the MEK 1/2 inhibitor selumetinib (AZD6244, ARRY-142886) in children with neurofibromatosis type 1 (NF1) and inoperable plexiform neurofibromas (PN); citation_author=Andrea M. Gross, Pamela Wolters, Andrea Baldwin, Eva Dombi, Michael J. Fisher, Brian D. Weiss, AeRang Kim, Jaishri O'Neill Blakeley, Patricia Whitcomb, Marielle Holmblad, Staci Martin, Marie Claire Roderick, Scott M. Paul, Janet Therrien, Kara Heisey, Austin Doyle, Malcolm A. Smith, John Glod, Seth M. Steinberg, Brigitte C. Widemann; citation_volume=36; citation_issue=15_suppl; citation_publication_date=2018; citation_pages=10503-10503; citation_doi=10.1200/JCO.2018.36.15_suppl.10503; citation_id=CR92 citation_journal_title=Proc Natl Acad Sci U S A; citation_title=Missense mutations in the NF2 gene result in the quantitative loss of merlin protein and minimally affect protein intrinsic function; citation_author=C Yang, AR Asthagiri, RR Iyer, J Lu, DS Xu, A Ksendzovsky; citation_volume=108; citation_publication_date=2011; citation_pages=4980-4985; citation_doi=10.1073/pnas.1102198108; citation_id=CR93 citation_journal_title=J Clin Oncol; citation_title=Treatment of patients with advanced neurofibromatosis type 2 with novel molecularly targeted therapies: from bench to bedside; citation_author=V Subbiah, J Slopis, DS Hong, LM Ketonen, J Hamilton, IE McCutcheon, R Kurzrock; citation_volume=30; citation_publication_date=2012; citation_pages=e64-e68; citation_doi=10.1200/JCO.2011.38.2614; citation_id=CR94 citation_journal_title=PLoS One; citation_title=RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients; citation_author=MT So, TY Leon, G Cheng, CS Tang, XP Miao, BK Cornes; citation_volume=6; citation_publication_date=2011; citation_doi=10.1371/journal.pone.0028986; citation_id=CR95 citation_journal_title=Pediatr Surg Int; citation_title=The risk of medullary thyroid carcinoma in patients with Hirschsprung's disease; citation_author=R Skába, S Dvoráková, E Václavíková, P Vlcek, M Frantlová, B Bendlová; citation_volume=22; citation_publication_date=2006; citation_pages=991-995; citation_doi=10.1007/s00383-006-1785-6; citation_id=CR96 citation_journal_title=Gut.; citation_title=Oncological implications of RET gene mutations in Hirschsprung's disease; citation_author=RH Sijmons, RM Hofstra, FA Wijburg, TP Links, RP Zwierstra, A Vermey; citation_volume=43; citation_publication_date=1998; citation_pages=542-547; citation_doi=10.1136/gut.43.4.542; citation_id=CR97 citation_journal_title=Ann Oncol; citation_title=Selective RET kinase inhibition for patients with RET-altered cancers; citation_author=V Subbiah, V Velcheti, BB Tuch, K Ebata, NL Busaidy, ME Cabanillas; citation_volume=29; citation_publication_date=2018; citation_pages=1869-1876; citation_doi=10.1093/annonc/mdy137; citation_id=CR98 citation_journal_title=Hum Mutat; citation_title=Mutations in the human LKB1/STK11 gene; citation_author=V Launonen; citation_volume=26; citation_publication_date=2005; citation_pages=291-297; citation_doi=10.1002/humu.20222; citation_id=CR99 citation_journal_title=Am J Gastroenterol; citation_title=High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations; citation_author=MG van Lier, A Wagner, EM Mathus-Vliegen, EJ Kuipers, EW Steyerberg, ME van Leerdam; citation_volume=105; citation_publication_date=2010; citation_pages=1258-1264; citation_doi=10.1038/ajg.2009.725; citation_id=CR100 citation_journal_title=Transplantation.; citation_title=SDZ RAD, a new rapamycin derivative: pharmacological properties in vitro and in vivo; citation_author=W Schuler, R Sedrani, S Cottens, B Häberlin, M Schulz, HJ Schuurman; citation_volume=64; citation_publication_date=1997; citation_pages=36-42; citation_doi=10.1097/00007890-199707150-00008; citation_id=CR101 Schneider K, Zelley K, Nichols KE, Garber J. Li-Fraumeni syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews. Seattle: University of Washington; 1999. citation_journal_title=Ann Intern Med; citation_title=Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?; citation_author=FP Li, JF Fraumeni; citation_volume=71; citation_publication_date=1969; citation_pages=747-752; citation_doi=10.7326/0003-4819-71-4-747; citation_id=CR103 citation_journal_title=Genet Mol Res; citation_title=R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature; citation_author=LM Borges, FM Ayres; citation_volume=14; citation_publication_date=2015; citation_pages=17034-17043; citation_doi=10.4238/2015.December.16.4; citation_id=CR104 citation_journal_title=Genes Cancer; citation_title=Li-Fraumeni syndrome; citation_author=D Malkin; citation_volume=2; citation_publication_date=2011; citation_pages=475-484; citation_doi=10.1177/1947601911413466; citation_id=CR105 citation_journal_title=N Engl J Med; citation_title=A mosaic activating mutation in AKT1 associated with the Proteus syndrome; citation_author=MJ Lindhurst, JC Sapp, JK Teer, JJ Johnston, EM Finn, K Peters; citation_volume=365; citation_publication_date=2011; citation_pages=611-619; citation_doi=10.1056/NEJMoa1104017; citation_id=CR106 citation_title=Proteus syndrome; citation_inbook_title=GeneReviews; citation_publication_date=2019; citation_id=CR107; citation_author=LG Biesecker; citation_author=JC Sapp; citation_publisher=University of Washington citation_journal_title=Cancer Discov.; citation_title=A first-in-human phase I study of the ATP-competitive AKT inhibitor ipatasertib demonstrates robust and safe targeting of AKT in patients with solid tumors; citation_author=C Saura, D Roda, S Roselló, M Oliveira, T Macarulla, JA Pérez-Fidalgo; citation_volume=7; citation_publication_date=2017; citation_pages=102-113; citation_doi=10.1158/2159-8290.CD-16-0512; citation_id=CR108 citation_journal_title=N Engl J Med; citation_title=Sturge-weber syndrome and port-wine stains caused by somatic mutation in GNAQ; citation_author=MD Shirley, H Tang, CJ Gallione, JD Baugher, LP Frelin, B Cohen; citation_volume=368; citation_publication_date=2013; citation_pages=1971-1979; citation_doi=10.1056/NEJMoa1213507; citation_id=CR109 citation_journal_title=Ann Neurol; citation_title=Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia; citation_author=AM D'Gama, Y Geng, JA Couto, B Martin, EA Boyle, CM LaCoursiere; citation_volume=77; citation_publication_date=2015; citation_pages=720-725; citation_doi=10.1002/ana.24357; citation_id=CR110 citation_journal_title=Clin Genet; citation_title=CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS); citation_author=A Martinez-Lopez, G Blasco-Morente, I Perez-Lopez, JD Herrera-Garcia, M Luque-Valenzuela, D Sanchez-Cano; citation_volume=91; citation_publication_date=2017; citation_pages=14-21; citation_doi=10.1111/cge.12832; citation_id=CR111 citation_journal_title=Pediatric Blood & Cancer; citation_title=Sonographic screening for Wilms tumor in children with CLOVES syndrome; citation_author=Caitlin M. Peterman, R. Dawn Fevurly, Ahmad I. Alomari, Cameron C. Trenor, Denise M. Adams, Sophie Vadeboncoeur, Marilyn G. Liang, Arin K. Greene, John B. Mulliken, Steven J. Fishman; citation_volume=64; citation_issue=12; citation_publication_date=2017; citation_pages=e26684; citation_doi=10.1002/pbc.26684; citation_id=CR112 citation_journal_title=Nature.; citation_title=Targeted therapy in patients with PIK3CA-related overgrowth syndrome; citation_author=Q Venot, T Blanc, SH Rabia, L Berteloot, S Ladraa, JP Duong; citation_volume=558; citation_publication_date=2018; citation_pages=540-546; citation_doi=10.1038/s41586-018-0217-9; citation_id=CR113 citation_journal_title=Nat Genet; citation_title=Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA; citation_author=MJ Lindhurst, VE Parker, F Payne, JC Sapp, S Rudge, J Harris; citation_volume=44; citation_publication_date=2012; citation_pages=928-933; citation_doi=10.1038/ng.2332; citation_id=CR114 citation_journal_title=Genet Med; citation_title=Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum; citation_author=VER Parker, KM Keppler-Noreuil, L Faivre, M Luu, NL Oden, L De Silva; citation_volume=21; citation_publication_date=2019; citation_pages=1189-1198; citation_doi=10.1038/s41436-018-0297-9; citation_id=CR115 citation_journal_title=Nature.; citation_title=Clonal evolution in cancer; citation_author=M Greaves, CC Maley; citation_volume=481; citation_publication_date=2012; citation_pages=306-313; citation_doi=10.1038/nature10762; citation_id=CR116 citation_journal_title=Nature.; citation_title=Mutations of the BRAF gene in human cancer; citation_author=H Davies, GR Bignell, C Cox, P Stephens, S Edkins, S Clegg; citation_volume=417; citation_publication_date=2002; citation_pages=949-954; citation_doi=10.1038/nature00766; citation_id=CR117 citation_journal_title=Br J Dermatol; citation_title=The role of BRAF mutations in primary melanoma growth rate and survival; citation_author=VJ Mar, W Liu, B Devitt, SQ Wong, A Dobrovic, GA McArthur; citation_volume=173; citation_publication_date=2015; citation_pages=76-82; citation_doi=10.1111/bjd.13756; citation_id=CR118 citation_journal_title=Mol Cancer Ther; citation_title=Genomically driven tumors and actionability across histologies: BRAF-mutant cancers as a paradigm; citation_author=ML Turski, SJ Vidwans, F Janku, I Garrido-Laguna, J Munoz, R Schwab; citation_volume=15; citation_publication_date=2016; citation_pages=533-547; citation_doi=10.1158/1535-7163.MCT-15-0643; citation_id=CR119 citation_journal_title=J Clin Oncol; citation_title=Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma; citation_author=GV Long, AM Menzies, AM Nagrial, LE Haydu, AL Hamilton, GJ Mann; citation_volume=29; citation_publication_date=2011; citation_pages=1239-1246; citation_doi=10.1200/JCO.2010.32.4327; citation_id=CR120 citation_journal_title=Hum Pathol; citation_title=Overexpression of HER-2/neu and its relationship with other prognostic factors change during the progression of in situ to invasive breast cancer; citation_author=DC Allred, GM Clark, R Molina, AK Tandon, SJ Schnitt, KW Gilchrist; citation_volume=23; citation_publication_date=1992; citation_pages=974-979; citation_doi=10.1016/0046-8177(92)90257-4; citation_id=CR121 citation_journal_title=Br J Cancer; citation_title=HER2/neu and Ki-67 expression predict non-invasive recurrence following breast-conserving therapy for ductal carcinoma in situ; citation_author=E Rakovitch, S Nofech-Mozes, W Hanna, S Narod, D Thiruchelvam, R Saskin; citation_volume=106; citation_publication_date=2012; citation_pages=1160-1165; citation_doi=10.1038/bjc.2012.41; citation_id=CR122 citation_journal_title=Ann Oncol; citation_title=Molecular phenotypes of DCIS predict overall and invasive recurrence; citation_author=KE Williams, NL Barnes, A Cramer, R Johnson, K Cheema, J Morris; citation_volume=26; citation_publication_date=2015; citation_pages=1019-1025; citation_doi=10.1093/annonc/mdv062; citation_id=CR123 citation_journal_title=Nature.; citation_title=Comprehensive molecular characterization of urothelial bladder carcinoma; citation_author=; citation_volume=507; citation_publication_date=2014; citation_pages=315-322; citation_doi=10.1038/nature12965; citation_id=CR124 citation_journal_title=Nat Genet; citation_title=Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas; citation_author=D Cappellen, C De Oliveira, D Ricol, S de Medina, J Bourdin, X Sastre-Garau; citation_volume=23; citation_publication_date=1999; citation_pages=18-20; citation_doi=10.1038/12615; citation_id=CR125 citation_journal_title=Clin Cancer Res; citation_title=The FGFR landscape in cancer: analysis of 4853 tumors by next generation sequencing; citation_author=T Helsten, S Elkin, E Arthur, BN Tomson, J Carter, R Kurzrock; citation_volume=22; citation_publication_date=2016; citation_pages=259-267; citation_doi=10.1158/1078-0432.CCR-14-3212; citation_id=CR126 citation_journal_title=N Engl J Med; citation_title=JAK2 mutations in myeloproliferative disorders; citation_author=A Tefferi, TL Lasho, G Gilliland; citation_volume=353; citation_publication_date=2005; citation_pages=1416-1417; citation_doi=10.1056/NEJMc051878; citation_id=CR127 citation_journal_title=N Engl J Med; citation_title=A gain-of-function mutation of JAK2 in myeloproliferative disorders; citation_author=R Kralovics, F Passamonti, AS Buser, SS Teo, R Tiedt, JR Passweg; citation_volume=352; citation_publication_date=2005; citation_pages=1779-1790; citation_doi=10.1056/NEJMoa051113; citation_id=CR128 citation_journal_title=Blood.; citation_title=Two routes to leukemic transformation after a JAK2 mutation-positive myeloproliferative neoplasm; citation_author=PA Beer, F Delhommeau, JP LeCouedic, MA Dawson, E Chen, D Bareford; citation_volume=115; citation_publication_date=2010; citation_pages=2891-2900; citation_doi=10.1182/blood-2009-08-236596; citation_id=CR129 citation_journal_title=BMC Med; citation_title=Utility of circulating tumor DNA in cancer diagnostics with emphasis on early detection; citation_author=C Fiala, EP Diamandis; citation_volume=16; citation_publication_date=2018; citation_pages=166; citation_doi=10.1186/s12916-018-1157-9; citation_id=CR130 citation_journal_title=Oncotarget.; citation_title=Circulating cell free DNA as the diagnostic marker for colorectal cancer: a systematic review and meta-analysis; citation_author=X Wang, XQ Shi, PW Zeng, FM Mo, ZH Chen; citation_volume=9; citation_publication_date=2018; citation_pages=24514-24524; citation_id=CR131 citation_journal_title=Front Oncol; citation_title=Diagnostic value of concentration of circulating cell-free DNA in breast cancer: a meta-analysis; citation_author=D Yu, Y Tong, X Guo, L Feng, Z Jiang, S Ying; citation_volume=9; citation_publication_date=2019; citation_pages=95; citation_doi=10.3389/fonc.2019.00095; citation_id=CR132 citation_journal_title=Journal of Clinical Oncology; citation_title=The Circulating Cell-free Genome Atlas (CCGA) Study: Size selection of cell-free DNA (cfDNA) fragments; citation_author=Darya Filippova, Matthew H. Larson, M. Cyrus Maher, Robert Calef, Monica Pimentel, Yiqi Zhou, Joshua Newman, Samuel Gross, Virgil Nicula, Ting-Chun Liu, Christopher Yakym, Jennifer Berman, Alex Aravanis, Arash Jamshidi; citation_volume=37; citation_issue=15_suppl; citation_publication_date=2019; citation_pages=3103-3103; citation_doi=10.1200/JCO.2019.37.15_suppl.3103; citation_id=CR133 citation_journal_title=Clin Cancer Res; citation_title=FDA approval summary: olaparib monotherapy in patients with deleterious germline BRCA-mutated advanced ovarian cancer treated with three or more lines of chemotherapy; citation_author=G Kim, G Ison, AE McKee, H Zhang, S Tang, T Gwise; citation_volume=21; citation_publication_date=2015; citation_pages=4257-4261; citation_doi=10.1158/1078-0432.CCR-15-0887; citation_id=CR134 citation_journal_title=N Engl J Med; citation_title=Maintenance olaparib in patients with newly diagnosed advanced ovarian cancer; citation_author=K Moore, N Colombo, G Scambia, BG Kim, A Oaknin, M Friedlander; citation_volume=379; citation_publication_date=2018; citation_pages=2495-2505; citation_doi=10.1056/NEJMoa1810858; citation_id=CR135 citation_journal_title=Journal of Clinical Oncology; citation_title=Olaparib versus chemotherapy treatment of physician’s choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer (OlympiAD): Efficacy in patients with visceral metastases; citation_author=Nadine M. Tung, Seock-Ah Im, Elzbieta Senkus-Konefka, Binghe Xu, Susan M. Domchek, Norikazu Masuda, Wei Li, Anne Caroline Armstrong, Pier Franco Conte, Wenting Wu, Carsten Dietrich Goessl, Sarah Runswick, Mark E. Robson; citation_volume=36; citation_issue=15_suppl; citation_publication_date=2018; citation_pages=1052-1052; citation_doi=10.1200/JCO.2018.36.15_suppl.1052; citation_id=CR136 citation_journal_title=N Engl J Med; citation_title=Talazoparib in patients with advanced breast cancer and a germline BRCA mutation; citation_author=JK Litton, HS Rugo, J Ettl, SA Hurvitz, A Gonçalves, KH Lee; citation_volume=379; citation_publication_date=2018; citation_pages=753-763; citation_doi=10.1056/NEJMoa1802905; citation_id=CR137 citation_journal_title=N Engl J Med; citation_title=PARP inhibitors and Parkinson's disease; citation_author=AL Olsen, MB Feany; citation_volume=380; citation_publication_date=2019; citation_pages=492-494; citation_doi=10.1056/NEJMcibr1814680; citation_id=CR138 citation_journal_title=Journal of the National Cancer Institute; citation_title=The Conundrum of Genetic “Drivers” in Benign Conditions; citation_author=Shumei Kato, Scott M. Lippman, Keith T. Flaherty, Razelle Kurzrock; citation_volume=108; citation_issue=8; citation_publication_date=2016; citation_pages=djw036; citation_doi=10.1093/jnci/djw036; citation_id=CR139 citation_journal_title=Science.; citation_title=p53 mutations in human cancers; citation_author=M Hollstein, D Sidransky, B Vogelstein, CC Harris; citation_volume=253; citation_publication_date=1991; citation_pages=49-53; citation_doi=10.1126/science.1905840; citation_id=CR140 citation_journal_title=Brain.; citation_title=High prevalence of KRAS/BRAF somatic mutations in brain and spinal cord arteriovenous malformations; citation_author=T Hong, Y Yan, J Li, I Radovanovic, X Ma, YW Shao; citation_volume=142; citation_publication_date=2019; citation_pages=23-34; citation_doi=10.1093/brain/awy307; citation_id=CR141 citation_journal_title=Cancer Res; citation_title=Autocrine interleukin-6 production in renal cell carcinoma: evidence for the involvement of p53; citation_author=LS Angelo, M Talpaz, R Kurzrock; citation_volume=62; citation_publication_date=2002; citation_pages=932-940; citation_id=CR142 citation_journal_title=Arthritis Res Ther; citation_title=p53 predominantly regulates IL-6 production and suppresses synovial inflammation in fibroblast-like synoviocytes and adjuvant-induced arthritis; citation_author=T Zhang, H Li, J Shi, S Li, M Li, L Zhang; citation_volume=18; citation_publication_date=2016; citation_pages=271; citation_doi=10.1186/s13075-016-1161-4; citation_id=CR143 citation_journal_title=Arch Dermatol; citation_title=The transformation rate of moles (melanocytic nevi) into cutaneous melanoma: a population-based estimate; citation_author=H Tsao, C Bevona, W Goggins, T Quinn; citation_volume=139; citation_publication_date=2003; citation_pages=282-288; citation_doi=10.1001/archderm.139.3.282; citation_id=CR144 citation_journal_title=J Dermatol Surg Oncol; citation_title=Prospective follow-up for malignant melanoma in patients with atypical-mole (dysplastic-nevus) syndrome; citation_author=AD Tiersten, CM Grin, AW Kopf, GJ Gottlieb, RS Bart, DS Rigel; citation_volume=17; citation_publication_date=1991; citation_pages=44-48; citation_doi=10.1111/j.1524-4725.1991.tb01592.x; citation_id=CR145 citation_journal_title=Cancer Res; citation_title=Oncogenic BRAF is required for tumor growth and maintenance in melanoma models; citation_author=KP Hoeflich, DC Gray, MT Eby, JY Tien, L Wong, J Bower; citation_volume=66; citation_publication_date=2006; citation_pages=999-1006; citation_doi=10.1158/0008-5472.CAN-05-2720; citation_id=CR146 citation_journal_title=Journal of Clinical Oncology; citation_title=Seventeen percent of NGS 50 gene panel variants are not expressed in RNAseq; citation_author=Razelle Kurzrock, Rahul Parulkar, Timothy Joseph Yeatman, Wafik S. El-Deiry, Timothy J. Pluard, Chad Garner, Sandeep K. Reddy; citation_volume=36; citation_issue=15_suppl; citation_publication_date=2018; citation_pages=12118-12118; citation_doi=10.1200/JCO.2018.36.15_suppl.12118; citation_id=CR147 citation_journal_title=Proc Natl Acad Sci U S A; citation_title=Mutation and cancer: statistical study of retinoblastoma; citation_author=AG Knudson; citation_volume=68; citation_publication_date=1971; citation_pages=820-823; citation_doi=10.1073/pnas.68.4.820; citation_id=CR148 citation_journal_title=PLoS Comput Biol; citation_title=Estimating the number of genetic mutations (hits) required for carcinogenesis based on the distribution of somatic mutations; citation_author=R Anandakrishnan, RT Varghese, NA Kinney, HR Garner; citation_volume=15; citation_publication_date=2019; citation_doi=10.1371/journal.pcbi.1006881; citation_id=CR149 citation_journal_title=Cell Stem Cell; citation_title=Outcompeting p53-mutant cells in the normal esophagus by redox manipulation; citation_author=D Fernandez-Antoran, G Piedrafita, K Murai, SH Ong, A Herms, C Frezza, PH Jones; citation_volume=25; citation_publication_date=2019; citation_pages=329-341; citation_doi=10.1016/j.stem.2019.06.011; citation_id=CR150 citation_journal_title=Nature.; citation_title=Age-related remodelling of oesophageal epithelia by mutated cancer drivers; citation_author=A Yokoyama, N Kakiuchi, T Yoshizato, Y Nannya, H Suzuki, Y Takeuchi; citation_volume=565; citation_publication_date=2019; citation_pages=312-317; citation_doi=10.1038/s41586-018-0811-x; citation_id=CR151 citation_journal_title=Science.; citation_title=Tumor evolution. High burden and pervasive positive selection of somatic mutations in normal human skin; citation_author=I Martincorena, A Roshan, M Gerstung, P Ellis, P Van Loo, S McLaren; citation_volume=348; citation_publication_date=2015; citation_pages=880-886; citation_doi=10.1126/science.aaa6806; citation_id=CR152 citation_journal_title=Blood.; citation_title=DNMT3A and TET2 dominate clonal hematopoiesis and demonstrate benign phenotypes and different genetic predispositions; citation_author=M Buscarlet, S Provost, YF Zada, A Barhdadi, V Bourgoin, G Lépine; citation_volume=130; citation_publication_date=2017; citation_pages=753-762; citation_doi=10.1182/blood-2017-04-777029; citation_id=CR153 citation_journal_title=Cell Stem Cell; citation_title=Therapy-related clonal hematopoiesis in patients with non-hematologic cancers is common and associated with adverse clinical outcomes; citation_author=CC Coombs, A Zehir, SM Devlin, A Kishtagari, A Syed, P Jonsson; citation_volume=21; citation_publication_date=2017; citation_pages=374-382; citation_doi=10.1016/j.stem.2017.07.010; citation_id=CR154 citation_journal_title=JAMA Oncol.; citation_title=Prevalence of clonal hematopoiesis mutations in tumor-only clinical genomic profiling of solid tumors; citation_author=RN Ptashkin, DL Mandelker, CC Coombs, K Bolton, Z Yelskaya, DM Hyman; citation_volume=4; citation_publication_date=2018; citation_pages=1589-1593; citation_doi=10.1001/jamaoncol.2018.2297; citation_id=CR155 citation_journal_title=Clin Cancer Res; citation_title=Identification of clonal hematopoiesis mutations in solid tumor patients undergoing unpaired next-generation sequencing assays; citation_author=CC Coombs, NK Gillis, X Tan, JS Berg, M Ball, ME Balasis; citation_volume=24; citation_publication_date=2018; citation_pages=5918-5924; citation_doi=10.1158/1078-0432.CCR-18-1201; citation_id=CR156 citation_journal_title=Nature.; citation_title=The landscape of somatic mutation in normal colorectal epithelial cells; citation_author=H Lee-Six, S Olafsson, P Ellis, RJ Osborne, MA Sanders, L Moore; citation_volume=574; citation_publication_date=2019; citation_pages=532-537; citation_doi=10.1038/s41586-019-1672-7; citation_id=CR157 citation_journal_title=Genome Med; citation_title=Somatic mutation and clonal expansions in human tissues; citation_author=I Martincorena; citation_volume=11; citation_publication_date=2019; citation_pages=35; citation_doi=10.1186/s13073-019-0648-4; citation_id=CR158 citation_journal_title=J Clin Invest; citation_title=Immune surveillance of tumors; citation_author=JB Swann, MJ Smyth; citation_volume=117; citation_publication_date=2007; citation_pages=1137-1146; citation_doi=10.1172/JCI31405; citation_id=CR159 citation_journal_title=Front Immunol; citation_title=Does the immune system naturally protect against cancer?; citation_author=A Corthay; citation_volume=5; citation_publication_date=2014; citation_pages=197; citation_doi=10.3389/fimmu.2014.00197; citation_id=CR160 citation_journal_title=Cell.; citation_title=MHC-I genotype restricts the oncogenic mutational landscape; citation_author=R Marty, S Kaabinejadian, D Rossell, MJ Slifker, J van de Haar, HB Engin; citation_volume=171; citation_publication_date=2017; citation_pages=1272-1283; citation_doi=10.1016/j.cell.2017.09.050; citation_id=CR161 citation_journal_title=J Invest Dermatol.; citation_title=RASopathy gene mutations in melanoma; citation_author=R Halaban, M Krauthammer; citation_volume=136; citation_publication_date=2016; citation_pages=1755-1759; citation_doi=10.1016/j.jid.2016.05.095; citation_id=CR162 citation_journal_title=Cell Cycle; citation_title=Mosaic RASopathies; citation_author=C Hafner, L Groesser; citation_volume=12; citation_publication_date=2013; citation_pages=43-50; citation_doi=10.4161/cc.23108; citation_id=CR163 van Leeuwaarde RS, Ahmad S, Links TP, Giles RH. Von Hippel-Lindau syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews. Seattle: University of Washington; 2000. citation_journal_title=Cell.; citation_title=Translating germline cancer risk into precision prevention; citation_author=MB Yurgelun, G Chenevix-Trench, SM Lippman; citation_volume=168; citation_publication_date=2017; citation_pages=566-570; citation_doi=10.1016/j.cell.2017.01.031; citation_id=CR165 citation_journal_title=Nat Commun; citation_title=NF1 heterozygosity fosters de novo tumorigenesis but impairs malignant transformation; citation_author=JP Brosseau, CP Liao, Y Wang, V Ramani, T Vandergriff, M Lee; citation_volume=9; citation_publication_date=2018; citation_pages=5014; citation_doi=10.1038/s41467-018-07452-y; citation_id=CR166 citation_journal_title=Genes (Basel); citation_title=Somatic mosaicism in the human genome; citation_author=D Freed, EL Stevens, J Pevsner; citation_volume=5; citation_publication_date=2014; citation_pages=1064-1094; citation_doi=10.3390/genes5041064; citation_id=CR167 citation_journal_title=Trends Genet; citation_title=Somatic mosaicism: implications for disease and transmission genetics; citation_author=IM Campbell, CA Shaw, P Stankiewicz, JR Lupski; citation_volume=31; citation_publication_date=2015; citation_pages=382-392; citation_doi=10.1016/j.tig.2015.03.013; citation_id=CR168 citation_journal_title=Am J Health Syst Pharm; citation_title=FDA approves tocilizumab to treat rheumatoid arthritis; citation_author=CA Thompson; citation_volume=67; citation_publication_date=2010; citation_pages=254; citation_doi=10.2146/news100012; citation_id=CR169 citation_journal_title=JAAD Case Rep; citation_title=Schnitzler syndrome associated with MYD88 L265P mutation; citation_author=AM Goodman, PR Cohen, A Li, B Hinds, R Kurzrock; citation_volume=5; citation_publication_date=2019; citation_pages=312-316; citation_doi=10.1016/j.jdcr.2019.02.002; citation_id=CR170 citation_journal_title=Clin Genet; citation_title=Old treatments for new genetic conditions: sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia; citation_author=C Leoni, R Onesimo, N Resta, ML Patti, R De Santis, R Bagnulo; citation_volume=96; citation_publication_date=2019; citation_pages=102-103; citation_doi=10.1111/cge.13550; citation_id=CR171 citation_journal_title=Hum Mol Genet; citation_title=A novel tyrosine kinase inhibitor restores chondrocyte differentiation and promotes bone growth in a gain-of-function Fgfr3 mouse model; citation_author=A Jonquoy, E Mugniery, C Benoist-Lasselin, N Kaci, L Le Corre, F Barbault; citation_volume=21; citation_publication_date=2012; citation_pages=841-851; citation_doi=10.1093/hmg/ddr514; citation_id=CR172 citation_journal_title=Pigment Cell Melanoma Res; citation_title=The genetics of uveal melanoma: an emerging framework for targeted therapy; citation_author=JW Harbour; citation_volume=25; citation_publication_date=2012; citation_pages=171-181; citation_doi=10.1111/j.1755-148X.2012.00979.x; citation_id=CR173 citation_journal_title=Cancer Cell; citation_title=RasGRP3 mediates MAPK pathway activation in GNAQ mutant uveal melanoma; citation_author=X Chen, Q Wu, P Depeille; citation_volume=31; citation_publication_date=2017; citation_pages=685-696; citation_doi=10.1016/j.ccell.2017.04.002; citation_id=CR174 citation_journal_title=Semin Pediatr Neurol; citation_title=Current therapeutic options in Sturge-weber syndrome; citation_author=A Comi; citation_volume=22; citation_publication_date=2015; citation_pages=295-301; citation_doi=10.1016/j.spen.2015.10.005; citation_id=CR175 citation_journal_title=Acta Neuropathol; citation_title=Dissecting the genetic basis of focal cortical dysplasia: a large cohort study; citation_author=S Baldassari, T Ribierre, E Marsan, H Adle-Biassette, S Ferrand-Sorbets, C Bulteau; citation_volume=138; citation_publication_date=2019; citation_pages=885-900; citation_doi=10.1007/s00401-019-02061-5; citation_id=CR176 citation_journal_title=J Anat; citation_title=New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives; citation_author=A Muhlebner, A Bongaarts, HB Sarnat, T Scholl, E Aronica; citation_volume=235; citation_publication_date=2019; citation_pages=521-542; citation_doi=10.1111/joa.12956; citation_id=CR177 citation_journal_title=Science.; citation_title=The clonal evolution of tumor cell populations; citation_author=PC Nowell; citation_volume=194; citation_publication_date=1976; citation_pages=23-28; citation_doi=10.1126/science.959840; citation_id=CR178 citation_journal_title=Proc Natl Acad Sci U S A; citation_title=Accumulation of driver and passenger mutations during tumor progression; citation_author=I Bozic, T Antal, H Ohtsuki, H Carter, D Kim, S Chen; citation_volume=107; citation_publication_date=2010; citation_pages=18545-18550; citation_doi=10.1073/pnas.1010978107; citation_id=CR179 citation_journal_title=Cancer Res; citation_title=The damaging effect of passenger mutations on cancer progression; citation_author=CD McFarland, JA Yaglom, JW Wojtkowiak, JG Scott, DL Morse, MY Sherman, LA Mirny; citation_volume=77; citation_publication_date=2017; citation_pages=4763-4772; citation_doi=10.1158/0008-5472.CAN-15-3283-T; citation_id=CR180 citation_journal_title=Journal of The Royal Society Interface; citation_title=Passenger mutations can accelerate tumour suppressor gene inactivation in cancer evolution; citation_author=Dominik Wodarz, Alan C. Newell, Natalia L. Komarova; citation_volume=15; citation_issue=143; citation_publication_date=2018; citation_pages=20170967; citation_doi=10.1098/rsif.2017.0967; citation_id=CR181 citation_journal_title=Nat Cell Biol; citation_title=Multicolour lineage tracing reveals clonal dynamics of squamous carcinoma evolution from initiation to metastasis; citation_author=MQ Reeves, E Kandyba, S Harris; citation_volume=20; citation_publication_date=2018; citation_pages=699-709; citation_doi=10.1038/s41556-018-0109-0; citation_id=CR182 citation_journal_title=Cancer Cell; citation_title=Passenger hotspot mutations in cancer; citation_author=JM Hess, A Bernards, J Kim, M Miller, A Taylor-Weiner, NJ Haradhvala; citation_volume=36; citation_publication_date=2019; citation_pages=288-301; citation_doi=10.1016/j.ccell.2019.08.002; citation_id=CR183 citation_journal_title=Br J Haematol; citation_title=JAK2 V617F-positive acute myeloid leukaemia (AML): a comparison between de novo AML and secondary AML transformed from an underlying myeloproliferative neoplasm. A study from the bone marrow pathology group; citation_author=J Aynardi, R Manur, PR Hess, S Chekol, JJD Morrissette, D Babushok; citation_volume=182; citation_publication_date=2018; citation_pages=78-85; citation_doi=10.1111/bjh.15276; citation_id=CR184 citation_journal_title=Cancer Res; citation_title=FLT3 and JAK2 mutations in acute myeloid leukemia promote interchromosomal homologous recombination and the potential for copy neutral loss of heterozygosity; citation_author=TJ Gaymes, A Mohamedali, AL Eiliazadeh, D Darling, GJ Mufti; citation_volume=77; citation_publication_date=2017; citation_pages=1697-1708; citation_doi=10.1158/0008-5472.CAN-16-1678; citation_id=CR185 citation_journal_title=Curr Biol; citation_title=BRAF mutations are sufficient to promote nevi formation and cooperate with p53 in the genesis of melanoma; citation_author=EE Patton, HR Widlund, JL Kutok, KR Kopani, JF Amatruda, RD Murphey; citation_volume=15; citation_publication_date=2005; citation_pages=249-254; citation_doi=10.1016/j.cub.2005.01.031; citation_id=CR186 citation_journal_title=Nat Biotechnol; citation_title=An avatar for precision cancer therapy; citation_author=S Kato, R Kurzrock; citation_volume=36; citation_publication_date=2018; citation_pages=1053-1055; citation_doi=10.1038/nbt.4293; citation_id=CR187 citation_journal_title=Lancet Respir Med; citation_title=Crizotinib in patients with advanced, inoperable inflammatory myofibroblastic tumours with and without anaplastic lymphoma kinase gene alterations (European Organisation for Research and Treatment of Cancer 90101 CREATE): a multicentre, single-drug, prospective, non-randomised phase 2 trial; citation_author=P Schöffski, J Sufliarsky, H Gelderblom, JY Blay, SJ Strauss, S Stacchiotti; citation_volume=6; citation_publication_date=2018; citation_pages=431-441; citation_doi=10.1016/S2213-2600(18)30116-4; citation_id=CR188 citation_journal_title=J Biol Chem; citation_title=MyD88, an adapter protein involved in interleukin-1 signaling; citation_author=K Burns, F Martinon, C Esslinger, H Pahl, P Schneider, JL Bodmer; citation_volume=273; citation_publication_date=1998; citation_pages=12203-12209; citation_doi=10.1074/jbc.273.20.12203; citation_id=CR189 Py C, Christinat Y, Kreutzfeldt M, McKee TA, Dietrich P-Y, Tsantoulis P. Response of NF1-mutated melanoma to an MEK inhibitor. JCO Precision Oncol 2018. https://ascopubs.org/doi/full/10.1200/PO.18.00028 . Accessed 16 Dec 2019. NF1 mutations prevalent but not clinically relevant. Cancer Discov. 2015. doi: https://doi.org/10.1158/2159-8290.CD-NB2015-119 . citation_journal_title=Nat Genet; citation_title=Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas; citation_author=M Krauthammer, Y Kong, A Bacchiocchi, P Evans, N Pornputtapong, C Wu; citation_volume=47; citation_publication_date=2015; citation_pages=996-1002; citation_doi=10.1038/ng.3361; citation_id=CR192 citation_journal_title=Cancer Metastasis Rev; citation_title=Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications; citation_author=T Helsten, M Schwaederle, R Kurzrock; citation_volume=34; citation_publication_date=2015; citation_pages=479-496; citation_doi=10.1007/s10555-015-9579-8; citation_id=CR193 citation_journal_title=J Intern Med; citation_title=Cell-free tumour DNA testing for early detection of cancer—a potential future tool; citation_author=G Barbany, C Arthur, A Lieden, M Nordenskjöld, R Rosenquist, B Tesi; citation_volume=286; citation_publication_date=2019; citation_pages=118-136; citation_id=CR194 citation_journal_title=Mol Cancer Ther; citation_title=Next-generation sequencing of tissue and circulating tumor DNA: The UC San Diego Moores Center for personalized cancer therapy experience with breast malignancies; citation_author=R Shatsky, BA Parker, NQ Bui, T Helsten, RB Schwab, SG Boles, R Kurzrock; citation_volume=18; citation_publication_date=2019; citation_pages=1001-1011; citation_doi=10.1158/1535-7163.MCT-17-1038; citation_id=CR195 citation_journal_title=Clin Cancer Res; citation_title=Analysis of circulating tumor DNA and clinical correlates in patients with esophageal, gastroesophageal junction, and gastric adenocarcinoma; citation_author=S Kato, R Okamura, JM Baumgartner, H Patel, L Leichman, K Kelly; citation_volume=24; citation_publication_date=2018; citation_pages=6248-6256; citation_doi=10.1158/1078-0432.CCR-18-1128; citation_id=CR196 Kato S, Schwaederle MC, Fanta PT, Okamura R, Leichman L, Lippman SM, et al. Genomic assessment of blood-derived circulating tumor DNA in patients with colorectal cancers: correlation with tissue sequencing, therapeutic response, and survival. JCO Precis Oncol. 2019;3 https://doi.org/10.1200/PO.18.00158 . citation_journal_title=J Appl Lab Med; citation_title=Circulating tumor DNA for early cancer detection; citation_author=C Fiala, V Kulasingam, EP Diamandis; citation_volume=3; citation_publication_date=2018; citation_pages=300-313; citation_doi=10.1373/jalm.2018.026393; citation_id=CR198 citation_journal_title=Mol Cancer; citation_title=The interplay of circulating tumor DNA and chromatin modification, therapeutic resistance, and metastasis; citation_author=L Zhang, Y Liang, S Li, F Zeng, Y Meng, Z Chen; citation_volume=18; citation_publication_date=2019; citation_pages=36; citation_doi=10.1186/s12943-019-0989-z; citation_id=CR199 citation_journal_title=Comput Struct Biotechnol J; citation_title=Techniques of using circulating tumor DNA as a liquid biopsy component in cancer management; citation_author=M Elazezy, SA Joosse; citation_volume=16; citation_publication_date=2018; citation_pages=370-378; citation_doi=10.1016/j.csbj.2018.10.002; citation_id=CR200 citation_journal_title=Clin Chem; citation_title=Incidental detection of maternal neoplasia in noninvasive prenatal testing; citation_author=NG Dharajiya, DS Grosu, DH Farkas, RM McCullough, E Almasri, Y Sun; citation_volume=64; citation_publication_date=2018; citation_pages=329-335; citation_doi=10.1373/clinchem.2017.277517; citation_id=CR201 citation_journal_title=NPJ Precis Oncol; citation_title=The potential of liquid biopsies for the early detection of cancer; citation_author=E Heitzer, S Perakis, JB Geigl, MR Speicher; citation_volume=1; citation_publication_date=2017; citation_pages=36; citation_doi=10.1038/s41698-017-0039-5; citation_id=CR202 citation_journal_title=Blood.; citation_title=Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes; citation_author=DP Steensma, R Bejar, S Jaiswal, RC Lindsley, MA Sekeres, RP Hasserjian, BL Ebert; citation_volume=126; citation_publication_date=2015; citation_pages=9-16; citation_doi=10.1182/blood-2015-03-631747; citation_id=CR203 citation_journal_title=FEBS Open Bio; citation_title=Circulating anti-p16a IgG autoantibodies as a potential prognostic biomarker for non-small cell lung cancer; citation_author=H Zhao, X Zhang, Z Han, Y Wang; citation_volume=8; citation_publication_date=2018; citation_pages=1875-1881; citation_doi=10.1002/2211-5463.12535; citation_id=CR204 citation_journal_title=Lung Cancer; citation_title=Detection of autoantibodies against cancer-testis antigens in non-small cell lung cancer; citation_author=D Djureinovic, T Dodig-Crnković, C Hellström, G Holgersson, M Bergqvist, JSM Mattsson; citation_volume=125; citation_publication_date=2018; citation_pages=157-163; citation_doi=10.1016/j.lungcan.2018.09.012; citation_id=CR205 citation_journal_title=PLoS One; citation_title=Improved detection of prostate cancer using a magneto-nanosensor assay for serum circulating autoantibodies; citation_author=L Xu, JR Lee, S Hao, XB Ling, JD Brooks, SX Wang, SS Gambhir; citation_volume=14; citation_publication_date=2019; citation_doi=10.1371/journal.pone.0221051; citation_id=CR206 citation_journal_title=Sci Rep; citation_title=Alteration of circulating natural autoantibodies to CD25-derived peptide antigens and FOXP3 in non-small cell lung cancer; citation_author=H Zhao, X Zhang, Z Han, W Xie, W Yang, J Wei; citation_volume=8; citation_publication_date=2018; citation_pages=9847; citation_doi=10.1038/s41598-018-28277-1; citation_id=CR207 citation_journal_title=Oncotarget.; citation_title=Circulating GRP78 antibodies from ovarian cancer patients: a promising tool for cancer cell targeting drug delivery system?; citation_author=K Van Hoesen, S Meynier, P Ribaux, P Petignat, F Delie, M Cohen; citation_volume=8; citation_publication_date=2017; citation_pages=107176-107187; citation_doi=10.18632/oncotarget.22412; citation_id=CR208 citation_journal_title=Oncoimmunology.; citation_title=Antigen shedding into the circulation contributes to tumor immune escape; citation_author=B Hochst, L Diehl; citation_volume=1; citation_publication_date=2012; citation_pages=1620-1622; citation_doi=10.4161/onci.21514; citation_id=CR209 citation_journal_title=Mol Clin Oncol; citation_title=A novel protein expression signature differentiates benign lipomas from well-differentiated liposarcomas; citation_author=Q Mather, J Priego, K Ward, V Kundan, D Tran, A Dwivedi, BA Bryan; citation_volume=7; citation_publication_date=2017; citation_pages=315-321; citation_doi=10.3892/mco.2017.1325; citation_id=CR210 citation_journal_title=J Exp Clin Cancer Res; citation_title=A panel of four genes accurately differentiates benign from malignant thyroid nodules; citation_author=QX Wang, ED Chen, YF Cai, Q Li, YX Jin, WX Jin; citation_volume=35; citation_publication_date=2016; citation_pages=169; citation_doi=10.1186/s13046-016-0447-3; citation_id=CR211 citation_journal_title=Clin Cancer Res; citation_title=Identification of genes differentially expressed in benign versus malignant thyroid tumors; citation_author=NB Prasad, H Somervell, RP Tufano, AP Dackiw, MR Marohn, JA Califano; citation_volume=14; citation_publication_date=2008; citation_pages=3327-3337; citation_doi=10.1158/1078-0432.CCR-07-4495; citation_id=CR212 citation_journal_title=Radiology.; citation_title=Characterization of metabolic differences between benign and malignant tumors: high-spectral-resolution diffuse optical spectroscopy; citation_author=S Kukreti, AE Cerussi, W Tanamai, D Hsiang, BJ Tromberg, E Gratton; citation_volume=254; citation_publication_date=2010; citation_pages=277-284; citation_doi=10.1148/radiol.09082134; citation_id=CR213 citation_journal_title=Cancer Res; citation_title=Using gene expression profiling to differentiate benign versus malignant thyroid tumors; citation_author=C Mazzanti, MA Zeiger, NG Costouros, C Umbricht, WH Westra, D Smith; citation_volume=64; citation_publication_date=2004; citation_pages=2898-2903; citation_doi=10.1158/0008-5472.CAN-03-3811; citation_id=CR214 citation_journal_title=Nat Commun; citation_title=Epigenetically reprogrammed methylation landscape drives the DNA self-assembly and serves as a universal cancer biomarker; citation_author=AA Sina, LG Carrascosa, Z Liang, YS Grewal, A Wardiana, MJA Shiddiky; citation_volume=9; citation_publication_date=2018; citation_pages=4915; citation_doi=10.1038/s41467-018-07214-w; citation_id=CR215 citation_journal_title=N Engl J Med; citation_title=The molecular genetics of Philadelphia chromosome-positive leukemias; citation_author=R Kurzrock, JU Gutterman, M Talpaz; citation_volume=319; citation_publication_date=1988; citation_pages=990-998; citation_doi=10.1056/NEJM198810133191506; citation_id=CR216 citation_journal_title=N Engl J Med; citation_title=Gefitinib or chemotherapy for non-small-cell lung cancer with mutated EGFR; citation_author=M Maemondo, A Inoue, K Kobayashi, S Sugawara, S Oizumi, H Isobe; citation_volume=362; citation_publication_date=2010; citation_pages=2380-2388; citation_doi=10.1056/NEJMoa0909530; citation_id=CR217 citation_journal_title=N Engl J Med; citation_title=Use of chemotherapy plus a monoclonal antibody against HER2 for metastatic breast cancer that overexpresses HER2; citation_author=DJ Slamon, B Leyland-Jones, S Shak, H Fuchs, V Paton, A Bajamonde; citation_volume=344; citation_publication_date=2001; citation_pages=783-792; citation_doi=10.1056/NEJM200103153441101; citation_id=CR218 citation_journal_title=Mol Cancer Ther; citation_title=Precision oncology: The UC San Diego Moores Cancer Center PREDICT Experience; citation_author=M Schwaederle, BA Parker, RB Schwab, GA Daniels, DE Piccioni, S Kesari; citation_volume=15; citation_publication_date=2016; citation_pages=743-752; citation_doi=10.1158/1535-7163.MCT-15-0795; citation_id=CR219 citation_journal_title=J Clin Oncol; citation_title=Impact of precision medicine in diverse cancers: a meta-analysis of phase II clinical trials; citation_author=M Schwaederle, M Zhao, JJ Lee, AM Eggermont, RL Schilsky, J Mendelsohn; citation_volume=33; citation_publication_date=2015; citation_pages=3817-3825; citation_doi=10.1200/JCO.2015.61.5997; citation_id=CR220 citation_journal_title=JAMA Oncol; citation_title=Association of biomarker-based treatment strategies with response rates and progression-free survival in refractory malignant neoplasms: a meta-analysis; citation_author=M Schwaederle, M Zhao, JJ Lee, V Lazar, B Leyland-Jones, RL Schilsky; citation_volume=2; citation_publication_date=2016; citation_pages=1452-1459; citation_doi=10.1001/jamaoncol.2016.2129; citation_id=CR221 citation_journal_title=Journal of the National Cancer Institute; citation_title=Impact of a Biomarker-Based Strategy on Oncology Drug Development: A Meta-analysis of Clinical Trials Leading to FDA Approval; citation_author=Denis L. Fontes Jardim, Maria Schwaederle, Caimiao Wei, J. Jack Lee, David S. Hong, Alexander M. Eggermont, Richard L. Schilsky, John Mendelsohn, Vladimir Lazar, Razelle Kurzrock; citation_volume=107; citation_issue=11; citation_publication_date=2015; citation_pages=djv253; citation_doi=10.1093/jnci/djv253; citation_id=CR222 citation_journal_title=Nat Med; citation_title=Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study; citation_author=JK Sicklick, S Kato, R Okamura, M Schwaederle, ME Hahn, CB Williams; citation_volume=25; citation_publication_date=2019; citation_pages=744-750; citation_doi=10.1038/s41591-019-0407-5; citation_id=CR223 citation_journal_title=Nat Med; citation_title=Genomic and transcriptomic profiling expands precision cancer medicine: the WINTHER trial; citation_author=J Rodon, JC Soria, R Berger, WH Miller, E Rubin, A Kugel; citation_volume=25; citation_publication_date=2019; citation_pages=751-758; citation_doi=10.1038/s41591-019-0424-4; citation_id=CR224 citation_journal_title=Nat Med; citation_title=Utility of ctDNA to support patient selection for early phase clinical trials: the TARGET study; citation_author=DG Rothwell, M Ayub, N Cook; citation_volume=25; citation_publication_date=2019; citation_pages=738-743; citation_doi=10.1038/s41591-019-0380-z; citation_id=CR225 citation_journal_title=Cell Rep; citation_title=Assessing PIK3CA and PTEN in early-phase trials with PI3K/AKT/mTOR inhibitors; citation_author=F Janku, DS Hong, S Fu; citation_volume=6; citation_publication_date=2014; citation_pages=377-387; citation_doi=10.1016/j.celrep.2013.12.035; citation_id=CR226 citation_journal_title=J Clin Oncol; citation_title=Targeted therapy for advanced solid tumors on the basis of molecular profiles: results from MyPathway, an open-label, phase IIa multiple basket study; citation_author=JD Hainsworth, F Meric-Bernstam, C Swanton, H Hurwitz, DR Spigel, C Sweeney; citation_volume=36; citation_publication_date=2018; citation_pages=536-542; citation_doi=10.1200/JCO.2017.75.3780; citation_id=CR227 citation_journal_title=N Engl J Med; citation_title=Efficacy of larotrectinib in TRK fusion-positive cancers in adults and children; citation_author=A Drilon, TW Laetsch, S Kummar, SG DuBois, UN Lassen, GD Demetri; citation_volume=378; citation_publication_date=2018; citation_pages=731-739; citation_doi=10.1056/NEJMoa1714448; citation_id=CR228 citation_journal_title=Mol Cancer Ther; citation_title=Tumor mutational burden as an independent predictor of response to immunotherapy in diverse cancers; citation_author=AM Goodman, S Kato, L Bazhenova, SP Patel, GM Frampton, V Miller; citation_volume=16; citation_publication_date=2017; citation_pages=2598-2608; citation_doi=10.1158/1535-7163.MCT-17-0386; citation_id=CR229