Ovarian cancer risk is associated with a common variant in the promoter sequence of the mismatch repair gene MLH1

Gynecologic Oncology

Volumn 109, Issue 3, 2008, Pages 384-387

  Harley, Ian ^a   Rosen, Barry ^c   Risch, Harvey A ^d   Siminovitch, Kathy ^b   Beiner, Mario E ^a,c   McLaughlin, John ^b   Sun, Ping ^c   Narod, Steven A ^c  

^a UNIVERSITY OF TORONTO   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Association; Mismatch repair; MLH1; Ovarian cancer

Indexed keywords

PROTEIN MLH1;

ADULT; ARTICLE; CANCER RISK; CLEAR CELL CARCINOMA; CONFIDENCE INTERVAL; CONTROLLED STUDY; ENDOMETRIOID CARCINOMA; ETHNIC GROUP; FEMALE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INVASIVE CARCINOMA; MAJOR CLINICAL STUDY; MISMATCH REPAIR; MUCINOUS CARCINOMA; OVARY CARCINOMA; PAPILLARY CARCINOMA; PRIORITY JOURNAL; PROMOTER REGION; RISK ASSESSMENT; SEQUENCE ANALYSIS; SEROUS CARCINOMA;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CASE-CONTROL STUDIES; ETHNIC GROUPS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MIDDLE AGED; NUCLEAR PROTEINS; ONTARIO; OVARIAN NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS);

EID: 44549084150     PISSN: 00908258     EISSN: 10956859     Source Type: Journal    
DOI: 10.1016/j.ygyno.2007.11.046     Document Type: Article

References (21)

1. IARC Cancer Incidence in Five Continents. VIII, 2002.
2. Risch H.A., McLaughlin J.R., Cole D.E., Rosen B., Bradley L., Kwan E., Jack E., Vesprini D.J., Kuperstein G., Abrahamson J.L., Fan I., Wong B., and Narod S.A. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 68 (2001) 700-710
3. Rubin S.C., Blackwood M.A., Bandera C., Behbakht K., Benjamin I., Rebbeck T.R., and Boyd J. 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 (1996) 670-677
4. Malander S., Rambech E., Kristoffersson U., Halvarsson B., Ridderheim M., Borg A., and Nilbert M. The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer. Gynecol Oncol 101 (2006) 238-243
5. Schofield M.J., and Hsieh P. DNA mismatch repair: molecular mechanisms and biological function. Annu Rev Microbiol 57 (2003) 579-608
6. Kunkel T.A., and Erie D.A. DNA mismatch repair. Annu Rev Biochem 74 (2005) 681-710
7. Eshleman J.R., and Markowitz S.D. Mismatch repair defects in human carcinogenesis. Hum Mol Genet (1996) 1489-1494 5 Spec No
8. Edelmann L., and Edelmann W. Loss of DNA mismatch repair function and cancer predisposition in the mouse: animal models for human hereditary nonpolyposis colorectal cancer. Am J Med Genet C Semin Med Genet 129 (2004) 91-99
9. Watson P., and Lynch H.T. Cancer risk in mismatch repair gene mutation carriers. Fam Cancer 1 (2001) 57-60
10. Geisler J.P., Goodheart M.J., Sood A.K., Holmes R.J., Hatterman-Zogg M.A., and Buller R.E. Mismatch repair gene expression defects contribute to microsatellite instability in ovarian carcinoma. Cancer 98 (2003) 2199-2206
11. Beiner M.E., Rosen B., Fyles A., Harley I., Pal T., Siminovitch K., Zhang S., Sun P., and Narod S.A. Endometrial cancer risk is associated with variants of the mismatch repair genes MLH1 and MSH2. Cancer Epidemiol Biomark Prev 15 (2006) 1636-1640
12. Raptis S., Mrkonjic M., Green R.C., Pethe V.V., Monga N., Chan Y.M., Daftary D., Dicks E., Younghusband B.H., Parfrey P.S., Gallinger S.S., McLaughlin J.R., Knight J.A., and Bapat B. MLH1-93G > A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer. J Natl Cancer Inst 99 (2007) 463-474
13. Ito E., Yanagisawa Y., Iwahashi Y., Suzuki Y., Nagasaki H., Akiyama Y., Sugano S., Yuasa Y., and Maruyama K. A core promoter and a frequent single-nucleotide polymorphism of the mismatch repair gene hMLH1. Biochem Biophys Res Commun 256 (1999) 488-494
14. Herman J.G., Umar A., Polyak K., Graff J.R., Ahuja N., Issa J.P., Markowitz S., Willson J.K., Hamilton S.R., Kinzler K.W., Kane M.F., Kolodner R.D., Vogelstein B., Kunkel T.A., and Baylin S.B. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci USA 95 (1998) 870-6875
15. Veigl M.L., Kasturi L., Olechnowicz J., Ma A.H., Lutterbaugh J.D., Periyasamy S., Li G.M., Drummond J., Modrich P.L., Sedwick W.D., and Markowitz S.D. Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. Proc Natl Acad Sci USA 95 (1998) 8698-8702
16. Willner J., Wurz K., Allison K.H., Galic V., Garcia R.L., Goff B.A., and Swisher E.M. Alternate molecular genetic pathways in ovarian carcinomas of common histological types. Hum Pathol 38 (2007) 607-613
17. Wiley A., Katsaros D., Chen H., Rigault de la Longrais I.A., Beeghly A., Puopolo M., Singal R., Zhang Y., Amoako A., Zelterman D., and Yu H. Aberrant promoter methylation of multiple genes in malignant ovarian tumors and in ovarian tumors with low malignant potential. Cancer 107 (2006) 299-308
18. Strathdee G., Appleton K., Illand M., Millan D.W., Sargent J., Paul J., and Brown R. Primary ovarian carcinomas display multiple methylator phenotypes involving known tumor suppressor genes. Am J Pathol 158 (2001) 1121-1127
19. Gras E., Catasus L., Arguelles R., Moreno-Bueno G., Palacios J., Gamallo C., Matias-Guiu X., and Prat J. Microsatellite instability, MLH-1 promoter hypermethylation, and frameshift mutations at coding mononucleotide repeat microsatellites in ovarian tumors. Cancer 92 (2001) 2829-2836
20. Helleman J., van Staveren I.L., Dinjens W.N., van Kuijk P.F., Ritstier K., Ewing P.C., van der Burg M.E., Stoter G., and Berns E.M. Mismatch repair and treatment resistance in ovarian cancer. BMC Cancer 6 (2006) 201
21. Deng G., Chen A., Pong E., and Kim Y.S. Methylation in hMLH1 promoter interferes with its binding to transcription factor CBF and inhibits gene expression. Oncogene 20 (2001) 7120-7127