Ovarian cancer of endometrioid type as part of the MSH6 gene mutation phenotype

Journal of Human Genetics

Volumn 47, Issue 10, 2002, Pages 529-531

  Suchy, J ^a   Kurzawski, G ^a   Jakubowska, A ^a   Lubinski J ^a  

^a POMERANIAN MEDICAL UNIVERSITY   (Poland)

Author keywords

Colon cancer; Endometrial cancer; Endometrioid type; Germline mutation; MSH6; Ovarian cancer

Indexed keywords

GENE PRODUCT; PROTEIN MSH6;

ADULT; AGED; ARTICLE; BASE MISPAIRING; CANCER FAMILY; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; COLORECTAL CARCINOMA; CONTROLLED STUDY; DISEASE ASSOCIATION; ENDOMETRIUM CARCINOMA; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC PREDISPOSITION; HUMAN; MALE; MISMATCH REPAIR; OVARY CARCINOMA; PATHOGENESIS; PHENOTYPE;

AGED; AGED, 80 AND OVER; BASE PAIR MISMATCH; CARCINOMA, ENDOMETRIOID; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MICROSATELLITE REPEATS; MIDDLE AGED; OVARIAN NEOPLASMS; PEDIGREE; PHENOTYPE;

FALLOPIA;

EID: 0036035578     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200079     Document Type: Article

References (19)

1. Acharya S, Wilson T, Gradia S, Kane MF, Guerrette S, Marsischky GT, Kolodner R, Fishel R (1996) hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. Proc Natl Acad Sci USA 93:13629-13634
2. Akiyama Y, Sato H, Yamada T, Nagasaki H, Tsuchiya A, Abe R, Yuasa Y (1997) Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 57:3920-3923
3. Berends MJW, Wu Y, Sijmons RH, Mensink RGJ, van der Sluis T, Hordiik-Hos JM, deVries EGE, Hollema H, Karrenbeld A, Buys CH, van der Zee AGJ, Hofstra RMW, 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
4. Debniak T, Kurzawski G, Gorski B, Kladny J, Domagala W, Lubinski J (2000) Value of pedigree/clinical data, immunohistochemistry and microsatellite instability analyses in reducing the cost of determining hMLH1 and hMSH2 gene mutations in patients with colorectal cancer. Eur J Cancer 36:49-54
5. Guerrette S, Wilson T, Gradia S, Fishel R (1998) Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: Examination of mutations found in hereditary nonpolyposis colorectal cancer. Mol Cell Biol 18:6616-6623
6. Huang J, Kuismanen SA, Liu T, Chadwick RB, Cheryl KJ, Stevens MW, Richards SK, Meek JE, Gao X, Wright FA, Mecklin JP, Järvinen HJ, Grönberg H, Bisgaard ML, Lindblom A, Peltomäki P (2001) MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. Cancer Res 61:1619-1623
7. Kolodner RD, Tytell JD, Schmeits JL, Kane MF, Gupta RD, Weger J, Wahlberg S, Fox EA, Peel D, Ziogas A, Garber JE, Sygnal S, Anton-Culver H, Li FP (1999) Germ-line MSH6 mutations in colorectal cancer families. Cancer Res 59:5068-5074
8. Kurzawski G, Suchy J, Kladny J, Safranow K, Jakubowska A, Elsakow P, Kucinskas V, Gardovski J, Irmejs A, Sibul H, Huzarski T, Byrski T, Dȩbniak T, Cybulski C, Gronwald J, Oszurek O, Clark J, Góźdź S, Niepsuj S, Stomski R, Ptawski A, La̧cka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska L, Bȩbenek M, Sorokin D, Stawicka M, Godlewski D, Richter P, Broiek I, Wysocka B, Jawień A, Banaszkiewicz Z, Kowalczyk J, Czudowska D, Goretzki P, Moeslein G, Lubiński J (2002) Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and Baltic States. J Med Genet (in press)
9. 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
10. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Dunlop MG, Hamilton SR, Petersen GM, de la Chapelle A, Vogelstein B, Kinzler KW (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371:75-80
11. Plaschke J, Kruppa Ch, Tischler R, Bocker T, Pistorius S, Dralle H, Rüschoff J, Saeger HD, Fishel R, Schackert HK (2000) Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer. Int J Cancer 85:606-613
12. Plaschke J, Krüger S, Pistorius S, Theissig F, Saeger HD, Schackert HK (2002) Involvement of hMSH6 in the development of hereditary and sporadic colorectal cancer revealed by immunostaining is based on germline mutations, but rarely on somatic inactivation. Int J Cancer 97:643-648
13. Verma L, Kane MF, Brassett C, Schmeits J, Evans DGR, Kolodner RD, Maher ER (1999) Mononucleotide microsatellite instability and germline mutations analysis in early onset colorectal cancer. J Med Genet 36:678-682
14. Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJF, Morreau H, Hofstra R, Tops C, Bik E, Bröker-Vriends AHJT, van der Meer C, Lindhout D, Vasen HFA, 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
15. Watson P, Bützow R, Lynch HT, Mecklin JP, Järvinen HJ, Vasen HFA, Madlensky L, Fidalgo P, Bernstein I, International Collaborative Group on HNPCC (2001) The clinical features of ovarian cancer in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 82:223-228
16. Wijnen J, de Leeuw W, Vasen H, van der Klift H, Møller P, Stormorken A, Meijers-Heijboer H, Lindhout D, Menko F, Vossen S, Möslein G, Tops C, Bröcker-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
17. Wu Y, Berends MJW, Mensink RGJ, Kempinga C, Sijmons RH, van der Zee AGJ, Hollema H, Kleibeuker JH, Buys CH, Hofstra RMW (1999) Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet 65:1291-1298
18. Wu Y, Berends MJ, Sijmons RH, Mensink RG, Velind E, Kooi KA, van der Sluis T, Kempinga C, van der Zee AG, Hollema H, Buys CH, Kleibeuker JH, Hofstra RMW (2001a) A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet 29:137-138
19. Wu Y, Berends MJ, Post JG, Mensink RG, Verlind E, van der Sluis T, Kempinga C, Sijmons RH, van der Zee AG, Hollema H, Kleibeuker JH, Buys CH, Hofstra RM (2001b) Germline mutations of EX01 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms. Gastroenterology 120:1580-1587