A germline missense mutation in exon 3 of the MSH2 gene in a Lynch syndrome family: correlation with phenotype and localization assay

Springer Science and Business Media LLC - Tập 17 Số 2 - Trang 215-224 - 2018
Francesca Bianchi1, Elena Maccaroni1, L. Belvederesi1, C. Brugiati1, Riccardo Giampieri1, Federica Bini1, R. Bracci1, Silvia Pagliaretta1, Michela Del Prete1, Francesco Piva2, Alessandra Mandolesi3, Marina Scarpelli3, Rossana Berardi1
1Clinica Oncologica e Centro Regionale di Genetica Oncologica, Università Politecnica delle Marche, Azienda Ospedaliero-Universitaria Ospedali Riuniti, Ancona, Italy
2Dipartimento di Scienze Cliniche Specialistiche e Odontostomatologiche, Università Politecnica delle Marche, Azienda Ospedaliero-Universitaria Ospedali Riuniti, Ancona, Italy
3Anatomia Patologica, Università Politecnica delle Marche, Azienda Ospedaliero-Universitaria Ospedali Riuniti, Ancona, Italy

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de la Chapelle A (2005) The incidence of Lynch syndrome. Fam Cancer 4(3):233–237. doi: 10.1007/s10689-004-5811-3

Lynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348:919–932. doi: 10.1056/NEJMra012242

Haraldsdottir S, Hampel H, Wei L, Wu C, Frankel W, Bekaii-Saab T, de la Chapelle A, Goldberg RM (2014) Prostate cancer incidence in males with Lynch syndrome. Genet Med 16:553–5577. doi: 10.1038/gim.2013.193

Peltomäki P (2005) Lynch syndrome genes. Fam Cancer 4:227–232. doi: 10.1007/s10689-004-7993-0

Vasen HF, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, Bernstein I, Bertario L, Burn J, Capella G, Colas C, Engel C, Frayling IM, Genuardi M, Heinimann K, Hes FJ, Hodgson SV, Karagiannis JA, Lalloo F, Lindblom A, Mecklin JP, Møller P, Myrhoj T, Nagengast FM, Parc Y, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Sijmons RH, Tejpar S, Thomas HJ, Rahner N, Wijnen JT, Järvinen HJ, Möslein G, Mallorca Group (2013) Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 62:812–823. doi: 10.1136/gutjnl-2012-304356

Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, Meltzer SJ, Rodriguez-Bigas MA, Fodde R, Ranzani GN, Srivastava S (1998) A National Cancer Institute Workshop on microsatellite instability for cancer detection and familial predisposition: development on international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58:5248–5257

Belvederesi L, Bianchi F, Galizia E, Loretelli C, Bracci R, Catalani R, Amati M, Cellerino R (2008) MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. Hum Mutat 29(11):E296–E309. doi: 10.1002/humu.20875

Maccaroni E, Bracci R, Giampieri R, Bianchi F, Belvederesi L, Brugiati C, Pagliaretta S, Del Prete M, Scartozzi M, Cascinu S (2015) Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal? Oncotarget 6(36):33848–38737. doi: 10.18632/oncotarget.5395

Vasen HF, Mecklin JP, Khan PM, Lynch HT (1991) The International Collaborative Group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 34(5):424–425

Vasen HF, Watson P, Mecklin JP, Lynch HT (1999) New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116(6):1453–1456

Syngal S, Fox EA, Eng C, Kolodner RD, Garber JE (2000) Sensitivity and specificity of clinical criteria for hereditary non-polyposis colorectal cancer associated mutations in MSH2 and MLH1. J Med Genet 37(9):641–645

Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, Lynch H, Perucho M, Smyrk T, Sobin L, Srivastava S (1997) A National Cancer Institute Workshop on hereditary nonpolyposis colorectal Cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst 89(23):1758–1762

Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96(4):261–268

Strate LL, Syngal S (2005) Hereditary colorectal cancer syndromes. Cancer Causes Control 16:201–213. doi: 10.1007/s10552-004-3488-4

Bianchi F, Galizia E, Porfiri E, Belvederesi L, Catalani R, Loretelli C, Bracci R, Bearzi I, Turchi C, Viel A, Cellerino R (2007) A missense germline mutation in exon 7 of the MSH2 gene in a HNPCC family from center-Italy. Fam Cancer 6(1):97–102. doi: 10.1007/s10689-006-9110-z

Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV; IARC Unclassified Genetic Variants Working Group (2008) Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 29:1282–1291. doi: 10.1002/humu.20880 .

Peltomäki P, Vasen H (2004) Mutations associated with HNPCC predisposition—Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 20(4–5):269–276

Plazzer JP, Sijmons RH, Woods MO, Peltomäki P, Thompson B, Den Dunnen JT, Macrae F (2013) The InSiGHT database: utilizing 100 years of insights into Lynch syndrome. Fam Cancer 12(2):175–180. doi: 10.1007/s10689-013-9616-0

Cravo M, Afonso AJ, Lage P, Albuquerque C, Maia L, Lacerda C, Fidalgo P, Chaves P, Cruz C, Nobre-Leitão C (2002) Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing. Gut 50:405–412

Genuardi M, Carrara S, Anti M, Ponz de Leon M, Viel A (1999) Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2. Eur J Hum Genet 7:778–782. doi: 10.1038/sj.ejhg.5200363

Scartozzi M, Bianchi F, Rosati S, Galizia E, Antolini A, Loretelli C, Piga A, Bearzi I, Cellerino R, Porfiri E (2002) Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression. J Clin Oncol 20:1203–1208. doi: 10.1200/JCO.2002.20.5.1203

Bianchi F, Galizia E, Catalani R, Belvederesi L, Ferretti C, Corradini F, Cellerino R (2009) CAT25 is a mononucleotide marker to identify HNPCC patients. J Mol Diagn 11(3):248–252. doi: 10.2353/jmoldx.2009.080155

Marcus VA, Madlensky L, Gryfe R, Kim H, So K, Millar A, Temple LK, Hsieh E, Hiruki T, Narod S, Bapat BV, Gallinger S, Redston M (1999) Immunohistochemistry for hMLH1 and hMSH2: a practical test for DNA mismatch repair-deficient tumors. Am J Surg Pathol 23:1248–1255

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–249. doi: 10.1038/nmeth0410-248

Drost M, Lützen A, van Hees S, Ferreira D, Calléja F, Zonneveld JB, Nielsen FC, Rasmussen LJ, de Wind N (2013) Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome. Proc Natl Acad Sci USA 110(23):9403–9408. doi: 10.1073/pnas.1220537110

Nyström-Lahti M, Perrera C, Räschle M, Panyushkina-Seiler E, Marra G, Curci A, Quaresima B, Costanzo F, D’Urso M, Venuta S, Jiricny J (2002) Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. Genes Chromosom Cancer 33(2):160–167

Piva F, Giulietti M, Burini AB, Principato G (2012) SpliceAid 2: a database of human splicing factors expression data and RNA target motifs. Hum Mutat 33:81–85. doi: 10.1002/humu.21609

Reese MG, Eeckman FH, Kulp D, Haussler D (1997) Improved splice site detection in Genie. J Comput Biol 4:311–323

Piva F, Giulietti M, Nardi B, Bellantuono C, Principato G (2010) An improved in silico selection of phenotype affecting polymorphisms in SLC6A4, HTR1A and HTR2A genes. Hum Psychopharmacol 25:153–161. doi: 10.1002/hup.1100

Giulietti M, Milantoni SA, Armeni T, Principato G, Piva F (2015) ExportAid: database of RNA elements regulating nuclear RNA export in mammals. Bioinformatics 31:246–251. doi: 10.1093/bioinformatics/btu620

Knudsen NØ, Nielsen FC, Vinther L, Bertelsen R, Holten-Andersen S, Liberti SE, Hofstra R, Kooi K, Rasmussen LJ (2007) Nuclear localization of human DNA mismatch repair protein exonuclease 1 (hEXO1). Nucleic Acids Res 35:2609–2619. doi: 10.1093/nar/gkl1166

Ollila S, Sarantaus L, Kariola R, Chan P, Hampel H, Holinski-Feder E, Macrae F, Kohonen-Corish M, Gerdes AM, Peltomäki P, Mangold E, de la Chapelle A, Greenblatt M, Nyström M (2006) Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. Gastroenterology 131(5):1408–1417. doi: 10.1053/j.gastro.2006.08.044

Piñol V, Castells A, Andreu M, Castellví-Bel S, Alenda C, Llor X, Xicola RM, Rodríguez-Moranta F, Payá A, Jover R, Bessa X; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association (2005) Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 293(16):1986–1994. doi: 10.1001/jama.293.16.1986

Petkovic S, Muller S (2015) RNA circularization strategies in vivo and in vitro. Nucleic Acids Res 43:2454–2465

Chen LL (2016) The biogenesis and emerging roles of circular RNAs. Nat Rev Mol Cell Biol 17:205–211

Ebbesen KK, Kjems J, Hansen TB (2016) Circular RNAs: identification, biogenesis and function. Biochim Biophys Acta 1859:163–168

Li J, Yang J, Zhou P, Le Y, Zhou C, Wang S et al (2015) Circular RNAs in cancer: novel insights into origins, properties, functions and implications. Am J Cancer Res 5:472–480

Chen S, Li T, Zhao Q, Xiao B, Guo J (2017) Using circular RNA hsa_circ_0000190 as a new biomarker in the diagnosis of gastric cancer. Clin Chim Acta 466:167–171

Han D, Li J, Wang H, Su X, Hou J, Gu Y, Qian C, Lin Y, Liu X, Huang M, Li N, Zhou W, Yu Y, Cao X (2017) Circular RNA MTO1 acts as the sponge of miR-9 to suppress hepatocellular carcinoma progression. Hepatology. doi: 10.1002/hep.29270

Fu L, Chen Q, Yao T, Li T, Ying S, Hu Y, Guo J (2017) Hsa_circ_0005986 inhibits carcinogenesis by acting as a miR-129-5p sponge and is used as a novel biomarker for hepatocellular carcinoma. Oncotarget 8(27):43878–43888. doi: 10.18632/oncotarget.16709

Du WW, Fang L, Yang W, Wu N, Awan FM, Yang Z et al (2017) Induction of tumor apoptosis through a circular RNA enhancing Foxo3 activity. Cell Death Differ 24(2):357–370

Armakola M, Higgins MJ, Figley MD, Barmada SJ, Scarborough EA, Diaz Z et al (2012) Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models. Nat Genet 44:1302–1309

Li Z, Huang C, Bao C, Chen L, Lin M, Wang X et al (2015) Exon-intron circular RNAs regulate transcription in the nucleus. Nat Struct Mol Biol 22:256–264

Kumar L, Shamsuzzama, Haque R, Baghel T, Nazir A. Circular RNAs: the emerging class of non-coding RNAs and their potential role in human neurodegenerative diseases. Mol Neurobiol 1–11

Li P, Chen S, Chen H, Mo X, Li T, Shao Y et al (2015) Using circular RNA as a novel type of biomarker in the screening of gastric cancer. Clin Chim Acta 444:132–136

Chen J, Li Y, Zheng Q, Bao C, He J, Chen B et al (2016) Circular RNA profile identifies circPVT1 as a proliferative factor and prognostic marker in gastric cancer. Cancer Lett 388:208–219