PALB2: research reaching to clinical outcomes for women with breast cancer
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Zentner D, Thompson TN, James PA, Trainer A, Ades LC, Macciocca I, et al. The cardiac genetics clinic: a model for multidisciplinary genomic medicine. Med J Aust. 2015;203(6):261:e1-6.
Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol. 2014;32(19):2001–9. doi: 10.1200/JCO.2013.53.6607 .
Desmond A, Kurian AW, Gabree M, Mills MA, Anderson MJ, Kobayashi Y, et al. Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. JAMA Oncol. 2015;1(7):943–51. doi: 10.1001/jamaoncol.2015.2690 .
Thompson ER, Rowley SM, Li N, McInerny S, Devereux L, Wong-Brown MW et al. Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. J Clin Oncol. 2016. doi: 10.1200/JCO.2015.63.7454 .
Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, et al. Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med. 2015;372(23):2243–57. doi: 10.1056/NEJMsr1501341 .
Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkas K, Roberts J, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371(6):497–506. doi: 10.1056/NEJMoa1400382 .
Antoniou A, Pharoah PDP, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117–30.
Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007;39(2):165–7.
EviQ Cancer Treatment Online. https://www.eviq.org.au .
Southey MC, Teo ZL, Winship I. PALB2 and breast cancer: ready for clinical translation! Appl Clin Genet. 2013;6:43–52. doi: 10.2147/TACG.S34116 .
Dansonka-Mieszkowska A, Kluska A, Moes J, Dabrowska M, Nowakowska D, Niwinska A, et al. A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. BMC Med Genet. 2010;11:20. doi: 10.1186/1471-2350-11-20 .
Foulkes WD, Ghadirian P, Akbari MR, Hamel N, Giroux S, Sabbaghian N, et al. Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women. Breast Cancer Res. 2007;9(6):R83. doi: 10.1186/bcr1828 .
Erkko H, Xia B, Nikkila J, Schleutker J, Syrjakoski K, Mannermaa A, et al. A recurrent mutation in PALB2 in Finnish cancer families. Nature. 2007;446(7133):316–9. doi: 10.1038/nature05609 .
Casadei S, Norquist BM, Walsh T, Stray S, Mandell JB, Lee MK, et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res. 2011;71(6):2222–9. doi: 10.1158/0008-5472.CAN-10-3958 .
Teo ZL, Sawyer SD, James PA, Mitchell G, Trainer AH, Lindeman GJ, et al. The incidence of PALB2 c.3113G > A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia. Fam Cancer. 2013;12(4):587–95. doi: 10.1007/s10689-013-9620-4 .
Teo ZL, Park DJ, Provenzano E, Chatfield CA, Odefrey FA, Nguyen-Dumont T, et al. Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families. Breast Cancer Res. 2013;15(1):R17. doi: 10.1186/bcr3392 .
Southey MC, Teo ZL, Dowty JG, Odefrey FA, Park DJ, Tischkowitz M, et al. A PALB2 mutation associated with high risk of breast cancer. Breast Cancer Res. 2010;12(6):R109. doi: 10.1186/bcr2796 .
Erkko H, Dowty JG, Nikkila J, Syrjakoski K, Mannermaa A, Pylkas K, et al. Penetrance analysis of the PALB2 c.1592delT founder mutation. Clin Cancer Res. 2008;14(14):4667–71. doi: 10.1158/1078-0432.CCR-08-0210 .
PALB2 Interest Group. http://www.palb2.org .
Heikkinen T, Karkkainen H, Aaltonen K, Milne RL, Heikkila P, Aittomaki K, et al. The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res. 2009;15(9):3214–22. doi: 10.1158/1078-0432.CCR-08-3128 .
Keogh LA, Southey MC, Maskiell J, Young MA, Gaff CL, Kirk J, et al. Uptake of offer to receive genetic information about BRCA1 and BRCA2 mutations in an Australian population-based study. Cancer Epidemiol Biomarkers Prev. 2004;13(12):2258–63.
Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, et al. FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. Hum Mol Genet. 2015;24(18):5345–55. doi: 10.1093/hmg/ddv251 .
Cybulski C, Carrot-Zhang J, Kluzniak W, Rivera B, Kashyap A, Wokolorczyk D, et al. Germline RECQL mutations are associated with breast cancer susceptibility. Nat Genet. 2015;47(6):643–6. doi: 10.1038/ng.3284 .
Southey MC, Park DJ, Nguyen-Dumont T, Campbell I, Thompson E, Trainer AH, et al. COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration. Breast Cancer Res. 2013;15(3):402. doi: 10.1186/bcr3434 .
Vietri MT, Caliendo G, Casamassimi A, Cioffi M, De Paola ML, Napoli C, et al. A novel PALB2 truncating mutation in an Italian family with male breast cancer. Oncol Rep. 2015;33(3):1243–7. doi: 10.3892/or.2014.3685 .
Peterlongo P, Catucci I, Pasquini G, Verderio P, Peissel B, Barile M, et al. PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer. Breast Cancer Res Treat. 2011;126(3):825–8. doi: 10.1007/s10549-010-1305-1 .
Tischkowitz MD, Sabbaghian N, Hamel N, Borgida A, Rosner C, Taherian N, et al. Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer. Gastroenterology. 2009;137(3):1183–6. doi: 10.1053/j.gastro.2009.06.055 .
Hofstatter EW, Domchek SM, Miron A, Garber J, Wang M, Componeschi K, et al. PALB2 mutations in familial breast and pancreatic cancer. Fam Cancer. 2011;10(2):225–31. doi: 10.1007/s10689-011-9426-1 .
Slater EP, Langer P, Niemczyk E, Strauch K, Butler J, Habbe N, et al. PALB2 mutations in European familial pancreatic cancer families. Clin Genet. 2010;78(5):490–4. doi: 10.1111/j.1399-0004.2010.01425.x .
Ghiorzo P, Pensotti V, Fornarini G, Sciallero S, Battistuzzi L, Belli F, et al. Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. Fam Cancer. 2012;11(1):41–7. doi: 10.1007/s10689-011-9483-5 .
Harinck F, Kluijt I, van Mil SE, Waisfisz Q, van Os TA, Aalfs CM, et al. Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated. Eur J Hum Genet. 2012;20(5):577–9. doi: 10.1038/ejhg.2011.226 .
Salo-Mullen EE, O’Reilly EM, Kelsen DP, Ashraf AM, Lowery MA, Yu KH, et al. Identification of germline genetic mutations in patients with pancreatic cancer. Cancer. 2015;121(24):4382–8. doi: 10.1002/cncr.29664 .
Waddell N, Pajic M, Patch AM, Chang DK, Kassahn KS, Bailey P, et al. Whole genomes redefine the mutational landscape of pancreatic cancer. Nature. 2015;518(7540):495–501. doi: 10.1038/nature14169 .
Ramus SJ, Song H, Dicks E, Tyrer JP, Rosenthal AN, Intermaggio MP, et al. Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. J Natl Cancer Inst. 2015;107:11. doi: 10.1093/jnci/djv214 .
Norquist BM, Harrell MI, Brady MF, Walsh T, Lee MK, Gulsuner S et al. Inherited Mutations in Women With Ovarian Carcinoma. JAMA Oncol. 2015:1-9. doi: 10.1001/jamaoncol.2015.5495 .
Tischkowitz M, Easton DF, Ball J, Hodgson SV, Mathew CG. Cancer incidence in relatives of British Fanconi Anaemia patients. BMC Cancer. 2008;8:257. doi: 10.1186/1471-2407-8-257 .
Tischkowitz M, Sabbaghian N, Ray AM, Lange EM, Foulkes WD, Cooney KA. Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer. Prostate. 2008;68(6):675–8. doi: 10.1002/pros.20729 .
Mantere T, Haanpaa M, Hanenberg H, Schleutker J, Kallioniemi A, Kahkonen M, et al. Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer. Clin Genet. 2015;88(1):68–73. doi: 10.1111/cge.12447 .
Pakkanen S, Wahlfors T, Siltanen S, Patrikainen M, Matikainen MP, Tammela TL, et al. PALB2 variants in hereditary and unselected Finnish prostate cancer cases. J Negat Results Biomed. 2009;8:12. doi: 10.1186/1477-5751-8-12 .
Cybulski C, Kluzniak W, Huzarski T, Wokolorczyk D, Kashyap A, Jakubowska A, et al. Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis. Lancet Oncol. 2015;16(6):638–44. doi: 10.1016/S1470-2045(15)70142-7 .
Teo ZL, Provenzano E, Dite GS, Park DJ, Apicella C, Sawyer SD, et al. Tumour morphology predicts PALB2 germline mutation status. Br J Cancer. 2013;109(1):154–63. doi: 10.1038/bjc.2013.295 .
PROMPT. https://promptinfo.squarespace.com/about-us/ .
Memorial Sloan Kettering Cancer Center. New Academic-Industry Partnership creates online registry for patients tested for inherited cancer risk. 2014. https://www.mskcc.org/press-releases/new-academic-industry-partnership-creates-online-registry-patients-tested-inherited-risk
Tavtigian SV, Chenevix-Trench G. Growing recognition of the role for rare missense substitutions in breast cancer susceptibility. Biomark Med. 2014;8(4):589–603. doi: 10.2217/bmm.13.143 .
Tischkowitz M, Capanu M, Sabbaghian N, Li L, Liang X, Vallee MP, et al. Rare germline mutations in PALB2 and breast cancer risk: a population-based study. Hum Mutat. 2012;33(4):674–80. doi: 10.1002/humu.22022 .
Scott CL, Jenkins MA, Southey MC, Davis TA, Leary JA, Easton DF, et al. Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics. Hum Genet. 2003;112(5-6):542–51. doi: 10.1007/s00439-003-0908-6 .
Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet. 2009;85(4):427–46.
Le Calvez-Kelm F, Lesueur F, Damiola F, Vallee M, Voegele C, Babikyan D, et al. Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. Breast Cancer Res. 2011;13(1):R6. doi: 10.1186/bcr2810 .
Lovelock PK, Spurdle AB, Mok MT, Farrugia DJ, Lakhani SR, Healey S, et al. Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? Breast Cancer Res. 2007;9(6):R82. doi: 10.1186/bcr1826 .
Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, et al. BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. J Med Genet. 2012;49(8):525–32. doi: 10.1136/jmedgenet-2012-101037 .
Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet. 2013;45(4):353–61. doi: 10.1038/ng.2563 . 61e1-2.
Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q et al. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst. 2016;108(2). doi: 10.1093/jnci/djv315 .
ENIGMA Consortium. http://enigmaconsortium.org .
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, et al. ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat. 2012;33(1):2–7. doi: 10.1002/humu.21628 .
Nguyen-Dumont T, Stewart J, Winship I, Southey MC. Rare genetic variants: making the connection with breast cancer susceptibility. AIMS Genet. 2015;2(4):281–92. doi: 10.3934/genet.2015.4.281 .
Park JY, Singh TR, Nassar N, Zhang F, Freund M, Hanenberg H, et al. Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. Oncogene. 2014;33(40):4803–12. doi: 10.1038/onc.2013.421 .
Guidugli L, Pankratz VS, Singh N, Thompson J, Erding CA, Engel C, et al. A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. Cancer Res. 2013;73(1):265–75. doi: 10.1158/0008-5472.CAN-12-2081 .
Quiles F, Fernandez-Rodriguez J, Mosca R, Feliubadalo L, Tornero E, Brunet J, et al. Functional and structural analysis of C-terminal BRCA1 missense variants. PLoS ONE. 2013;8(4), e61302. doi: 10.1371/journal.pone.0061302 .
Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, et al. BRCA1 Circos: a visualisation resource for functional analysis of missense variants. J Med Genet. 2015;52(4):224–30. doi: 10.1136/jmedgenet-2014-102766 .