Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer

British Journal of Cancer

Volumn 107, Issue 10, 2012, Pages 1783-1790

  Pal, T ^a   Akbari, M R ^b   Sun, P ^b   Lee, J H ^a   Fulp, J ^a   Thompson, Z ^a   Coppola, D ^a   Nicosia, S ^c   Sellers, T A ^a   Mclaughlin, J ^b,d   Risch, H A ^e,f   Rosen, B ^g,h   Shaw, P ^g   Schildkraut, J ⁱ   Narod, S A ^b  

^a H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF SOUTH FLORIDA   (United States)

^d MOUNT SINAI HOSPITAL   (Canada)

^e YALE UNIVERSITY   (United States)

^f YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g PRINCESS MARGARET HOSPITAL   (Canada)

^h UNIVERSITY OF TORONTO   (Canada)

ⁱ DUKE CANCER INSTITUTE   (United States)

Author keywords

Epithelial ovarian cancer; Hereditary non polyposis colorectal cancer; Mismatch repair genes; MLH1; MSH2; MSH6

Indexed keywords

ADULT; ARTICLE; CLINICAL FEATURE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MISMATCH REPAIR; MLH 1 GENE; MSH 2 GENE; MSH 6 GENE; NUCLEOTIDE SEQUENCE; OVARY CANCER; POPULATION RESEARCH; PRIORITY JOURNAL;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA-BINDING PROTEINS; FEMALE; HUMANS; MIDDLE AGED; MUTATION; MUTS HOMOLOG 2 PROTEIN; NEOPLASMS, GLANDULAR AND EPITHELIAL; NUCLEAR PROTEINS; OVARIAN NEOPLASMS;

EID: 84869084611     PISSN: 00070920     EISSN: 15321827     Source Type: Journal    
DOI: 10.1038/bjc.2012.452     Document Type: Article

References (50)

1. 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: 248-249.
2. Akbari MR, Zhang S, Fan I, Royer R, Li S, Risch H, McLaughlin J, Rosen B, Sun P, Narod SA (2011) Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes. J Med Genet 48: 783-786.
3. Berends MJ, Wu Y, Sijmons RH, Mensink RG, van der Sluis T, Hordijk-Hos JM, de Vries EG, Hollema H, Karrenbeld A, Buys CH, van der Zee AG, Hofstra RM, Kleibeuker JH (2002) Molecular and clinical characteristics of MSH6 variants: An analysis of 25 index carriers of a germline variant. Am J Hum Genet 70: 26-37. (Pubitemid 34031695)
4. Bonadona V, Bonaiti B, Olschwang S, Grandjouan S, Huiart L, Longy M, Guimbaud R, Buecher B, Bignon YJ, Caron O, Colas C, Nogues C, Lejeune-Dumoulin S, Olivier-Faivre L, Polycarpe-Osaer F, Nguyen TD, Desseigne F, Saurin JC, Berthet P, Leroux D, Duffour J, Manouvrier S, Frebourg T, Sobol H, Lasset C, Bonaiti-Pellie C (2011) Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 305: 2304-2310.
5. Chao EC, Velasquez JL, Witherspoon MS, Rozek LS, Peel D, Ng P, Gruber SB, Watson P, Rennert G, Anton-Culver H, Lynch H, Lipkin SM (2008) Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPPMMR). Hum Mutat 29: 852-860. (Pubitemid 351794136)
6. Crijnen TE, Janssen-Heijnen ML, Gelderblom H, Morreau J, Nooij MA, Kenter GG, Vasen HF (2005) Survival of patients with ovarian cancer due to a mismatch repair defect. Fam Cancer 4: 301-305. (Pubitemid 41795805)
7. de Jong AE, van Puijenbroek M, Hendriks Y, Tops C, Wijnen J, Ausems MG, Meijers-Heijboer H, Wagner A, van Os TA, Brocker-Vriends AH, Vasen HF, Morreau H (2004) Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res 10: 972-980. (Pubitemid 38198898)
8. Devlin LA, Graham CA, Price JH, Morrison PJ (2008) Germline MSH6. mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts Ulster Med J 77 25-30 (Pubitemid 351148703)
9. Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE (2007) A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet 81: 873-883. (Pubitemid 47580242)
10. Elsaleh H, Joseph D, Grieu F, Zeps N, Spry N, Iacopetta B (2000) Association of tumour site and sex with survival benefit from adjuvant chemotherapy in colorectal cancer. Lancet 355: 1745-1750. (Pubitemid 30265078)
11. Elsaleh H, Powell B, McCaul K, Grieu F, Grant R, Joseph D, Iacopetta B (2001) P53 alteration and microsatellite instability have predictive value for survival benefit from chemotherapy in stage III colorectal carcinoma. Clin Cancer Res 7: 1343-1349. (Pubitemid 32708690)
12. Grabowski M, Mueller-Koch Y, Grasbon-Frodl E, Koehler U, Keller G, Vogelsang H, Dietmaier W, Kopp R, Siebers U, Schmitt W, Neitzel B, Gruber M, Doerner C, Kerker B, Ruemmele P, Henke G, Holinski-Feder E (2005) Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families. Genet Test 9: 138-146. (Pubitemid 40875014)
13. Gylling A, Ridanpaa M, Vierimaa O, Aittomaki K, Avela K, Kaariainen H, Laivuori H, Poyhonen M, Sallinen SL, Wallgren-Pettersson C, Jarvinen HJ, Mecklin JP, Peltomaki P (2009) Large genomic rearrangements and germline epimutations in Lynch syndrome. Int J Cancer 124: 2333-2340.
14. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Clendenning M, Sotamaa K, Prior T, Westman JA, Panescu J, Fix D, Lockman J, LaJeunesse J, Comeras I, de la Chapelle A (2008) Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 26: 5783-5788.
15. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, Lockman J, Comeras I, de la Chapelle A (2005) Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 352: 1851-1860.
16. Hemminki A, Mecklin JP, Jarvinen H, Aaltonen LA, Joensuu H (2000) Microsatellite instability is a favorable prognostic indicator in patients with colorectal cancer receiving chemotherapy. Gastroenterology 119: 921-928.
17. Ketabi Z, Bartuma K, Bernstein I, Malander S, Gronberg H, Bjorck E, Holck S, Nilbert M (2011) Ovarian cancer linked to Lynch syndrome typically presents as early-onset, non-serous epithelial tumors. Gynecol Oncol 121: 462-465.
18. Kovacs ME, Papp J, Szentirmay Z, Otto S, Olah E (2009) Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat 30: 197-203.
19. Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR (2009) Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet 76: 1-18.
20. Lynch PM (2006) Current approaches in familial colorectal cancer: A clinical perspective. J Natl Compr Cancer Netw 4: 421-430. (Pubitemid 44265359)
21. Malander S, Rambech E, Kristoffersson U, Halvarsson B, Ridderheim M, Borg A, Nilbert M (2006) The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer. Gynecol Oncol 101: 238-243.
22. Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, Igari T, Koike M, Chiba M, Mori T (1997) Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet 17: 271-272.
23. Ng PC, Henikoff S (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31: 3812-3814. (Pubitemid 37442253)
24. Pal T, Permuth-Wey J, Betts JA, Krischer JP, Fiorica J, Arango H, LaPolla J, Hoffman M, Martino MA, Wakeley K, Wilbanks G, Nicosia S, Cantor A, Sutphen R (2005) BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 104: 2807-2816. (Pubitemid 41798292)
25. Pal T, Permuth-Wey J, Kumar A, Sellers TA (2008a) Systematic review and meta-Analysis of ovarian cancers: estimation of microsatellite-high frequency and characterization of mismatch repair deficient tumor histology. Clin Cancer Res 14: 6847-6854.
26. Pal T, Permuth-Wey J, Sellers TA (2008b) A review of the clinical relevance of mismatch-repair deficiency in ovarian cancer. Cancer 113: 733-742.
27. Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Hamilton SR, Petersen GM, Watson P, Lynch HT, Peltomaki P, Mecklin JP, de la Chapelle A, Kinzler KW, Vogelstein B (1994) Mutation of a mutL homolog in hereditary colon cancer. Science 263: 1625-1629. (Pubitemid 24128369)
28. Pastrello C, Pin E, Marroni F, Bedin C, Fornasarig M, Tibiletti MG, Oliani C, Ponz de Leon M, Urso ED, Della Puppa L, Agostini M, Viel A (2011) Integrated analysis of unclassified variants in mismatch repair genes. Genet Med 13: 115-124.
29. Peltomaki P, Vasen HF (1997) Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology 113: 1146-1158. (Pubitemid 27418968)
30. Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lonnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes AM, Peltomaki P, Kohonen-Ccorish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, Nystrom M (2005) Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 129: 537-549. (Pubitemid 41096642)
31. Ramsoekh D, Wagner A, van Leerdam ME, Dooijes D, Tops CM, Steyerberg EW, Kuipers EJ (2009) Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management. Hered Cancer Clin Pract 7: 17.
32. Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, Jack E, Vesprini DJ, Kuperstein G, Abrahamson JL, Fan I, Wong B, Narod SA (2001) Prevalence and penetrance of germline BRCA1 and BRCA2. mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 68: 700-710. (Pubitemid 32203724)
33. Rozen S, Skaletsky HJ (2000) Primer3 on the WWW for general users for biologist programmers. In Methods Mol Biol, Misener S, Krawetz SA (eds), pp 365-386. Humana Press: Totowa, NJ\
34. Rubin SC, Blackwood MA, Bandera C, Behbakht K, Benjamin I, Rebbeck TR, Boyd J (1998) BRCA1, BRCA2 and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: relationship to family history and implications for genetic testing. Am J Obstet Gynecol 178: 670-677. (Pubitemid 28196872)
35. Sjursen W, Haukanes BI, Grindedal EM, Aarset H, Stormorken A, Engebretsen LF, Jonsrud C, Bjornevoll I, Andresen PA, Ariansen S, Lavik LA, Gilde B, Bowitz-Lothe IM, Maehle L, Moller P (2010) Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. J Med Genet 47: 579-585.
36. Stratton JF, Thompson D, Bobrow L, Dalal N, Gore M, Bishop DT, Scott I, Evans G, Daly P, Easton DF, Ponder BA (1999) The genetic epidemiology of early-onset epithelial ovarian cancer: A population-based study. Am J Hum Genet 65: 1725-1732. (Pubitemid 30468686)
37. Syngal S, Weeks JC, Schrag D, Garber JE, Kuntz KM (1998) Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations. Ann Intern Med 129: 787-796. (Pubitemid 28522813)
38. Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A (2006) Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet 43: 295-305.
39. Tavtigian SV, Greenblatt MS, Lesueur F, Byrnes GB (2008) In silico analysis of missense substitutions using sequence-Alignment based methods. Hum Mutat 29: 1327-1336.
40. Taylor KJ, Schwartz PE (1994) Screening for early ovarian cancer. Radiology 192: 1-10. (Pubitemid 24191508)
41. van der Klift H, Wijnen J, Wagner A, Verkuilen P, Tops C, Otway R, Kohonen-Corish M, Vasen H, Oliani C, Barana D, Moller P, Delozier-Blanchet C, Hutter P, Foulkes W, Lynch H, Burn J, Moslein G, Fodde R (2005) Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2. responsible for hereditary nonpolyposis colorectal cancer (HNPCC) Genes Chromosomes Cancer 44: 123-138. (Pubitemid 41306641)
42. Vasen HF (2005) Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)]. Fam Cancer 4: 219-225. (Pubitemid 41242190)
43. Vasen HF, van Ballegooijen M, Buskens E, Kleibeuker JK, Taal BG, Griffioen G, Nagengast FM, Menko FH, Meera Khan P (1998) A costeffectiveness analysis of colorectal screening of hereditary nonpolyposis colorectal carcinoma gene carriers. Cancer 82: 1632-1637. (Pubitemid 28208910)
44. 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: 1453-1456. (Pubitemid 29258894)
45. Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJ, Morreau H, Hofstra R, Tops C, Bik E, Brocker-Vriends AH, van Der Meer C, Lindhout D, Vasen HF, Breuning MH, Cornelisse CJ, van Krimpen C, Niermeijer MF, Zwinderman AH, Wijnen J, Fodde R (2001) Atypical HNPCC owing to MSH6 germline mutations: Analysis of a large Dutch pedigree. J Med Genet 38: 318-322. (Pubitemid 32433985)
46. Watson P, Lynch HT (2001) Cancer risk in mismatch repair gene mutation carriers. Fam Cancer 1: 57-60.
47. Wenham RM, Schildkraut JM, McLean K, Calingaert B, RC Bentley, Marks J, Berchuck A (2003) Polymorphisms in BRCA1 and BRCA2 and risk of epithelial ovarian cancer. Clin Cancer Res 9: 4396-4403. (Pubitemid 37248396)
48. Whittemore AS, Harris R, Itnyre J (1992) Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. II. Invasive epithelial ovarian cancers in white women. Collaborative Ovarian Cancer Group. Am J Epidemiol 136: 1184-1203. (Pubitemid 23026890)
49. Wijnen J, de Leeuw W, Vasen H, van der Klift H, Moller P, Stormorken A, Meijers-Heijboer H, Lindhout D, Menko F, Vossen S, Moslein G, Tops C, Brocker-Vriends A, Wu Y, Hofstra R, Sijmons R, Cornelisse C, Morreau H, Fodde R (1999) Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 23: 142-144. (Pubitemid 29455383)
50. Wu Y, Berends MJ, Mensink RG, Kempinga C, Sijmons RH, van Der Zee AG, Hollema H, Kleibeuker JH, Buys CH, Hofstra RM (1999) Association of hereditary nonpolyposis colorectal cancer-related tumours displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet 65: 1291-1298(Pubitemid 30460379)