MLH3 mutation in endometrial cancer

Cancer Research

Volumn 66, Issue 15, 2006, Pages 7502-7508

  Taylor, Nicholas P ^a   Powell, Matthew A ^a   Gibb, Randall K ^a   Rader, Janet S ^a   Huettner, Phyllis C ^a   Thibodeau, Stephen N ^b   Mutch, David G ^a   Goodfellow, Paul J ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Mayo Clinic   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PEPTIDES AND PROTEINS; PROTEIN MLH3; PROTEIN MSH6; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CANCER RISK; CANCER SUSCEPTIBILITY; CARCINOGENESIS; COLORECTAL CANCER; CONTROLLED STUDY; ENDOMETRIUM CANCER; FEMALE; GENE MUTATION; GERM LINE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; METHYLATION; MISMATCH REPAIR; MISSENSE MUTATION; PRIORITY JOURNAL; RESTRICTION MAPPING; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION;

BASE SEQUENCE; CARRIER PROTEINS; CASE-CONTROL STUDIES; COHORT STUDIES; DNA METHYLATION; ENDOMETRIAL NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; LOSS OF HETEROZYGOSITY; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PROMOTER REGIONS (GENETICS);

EID: 33747892726     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-06-0248     Document Type: Article

References (40)

1. Loeb LA. Mutator phenotype may be required for multistage carcinogenesis. Cancer Res 1991;51:3075-9.
2. Lengauer C, Kinzler KW, Vogelstein B. Genetic instabilities in human cancers. Nature 1998;396:643-9.
3. Charames GS, Bapat B. Genomic instability and cancer. Curr Mol Med 2003;3:589-96.
4. Draviam VM, Xie S, Sorger PK. Chromosome segregation and genomic stability. Curr Opin Genet Dev 2004;14:120-5.
5. Risinger JI, Berchuck A, Kohler MF, et al. Genetic instability of microsatellites in endometrial carcinoma. Cancer Res 1993;53:5100-3.
6. Burks RT, Kessis TD, Cho KR, Hedrick L. Microsatellite instability in endometrial carcinoma. Oncogene 1994;9:1163-6.
7. Kobayashi K, Sagae S, Kudo R, et al. Microsatellite instability in endometrial carcinomas: frequent replication errors in tumors of early onset and/or of poorly differentiated type. Genes Chromosomes Cancer 1995;14:128-32.
8. Gurin CC, Federici MG, Kang L, Boyd J. Causes and consequences of microsatellite instability in endometrial carcinoma. Cancer Res 1999;59:462-6.
9. Goodfellow PJ, Buttin BM, Herzog TJ, et al. Prevalence of defective DNA mismatch repair and MSH6 mutation in an unselected scries of endometrial cancers. Proc Natl Acad Sci U S A 2003;100:5908-13.
10. Vassileva V, Millar A, Briollais L, Chapman W, Bapat B. Genes involved in DNA repair are mutational targets in endometrial cancers with microsatellite instability. Cancer Res 2002;62:4095-9.
11. Vassileva V, Millar A, Briollais L, Chapman W, Bapat B. Apoptotic and growth regulatory genes as mutational targets in mismatch repair deficient endometrioid adenocarcinomas of young patients. Oncol Rep 2004;11:931-7.
12. Fishel R. The selection for mismatch repair defects in hereditary nonpolyposis colorectal cancer: revising the mutator hypothesis. Cancer Res 2001;61:7369-74.
13. Lipkin SM, Wang V, Stoler DL, et al. Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: evidence for somatic mutation in colorectal cancers. Hum Mutat 2001;17:389-96.
14. Wu Y, Berends MJ, Sijmons RH, et al. A role for MLH3 in hereditary nonpolyposis colorectal cancer. Nat Genet 2001;29:137-8.
15. Liu HX, Zhou XL, Liu T, et al. The role of hMLH3 in familial colorectal cancer. Cancer Res 2003;63:1894-9.
16. Loukola A, Vilkki S, Singh J, Launonen V, Aaltonen LA. Germline and somatic mutation analysis of MLH3 in MSI-positive colorectal cancer. Am J Pathol 2000;157:347-52.
17. Hienonen T, Laiho P, Salovaara R, et al. Little evidence for involvement of MLH3 in colorectal cancer predisposition. Int J Cancer 2003;106:292-6.
18. Lipkin SM, Wang V, Jacoby R, et al. MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability. Nat Genet 2000;24:27-35.
19. Flores-Rozas H, Kolodner RD. The Saccharomyces cerevisiae MLH3 gene functions in MSH3-dependent suppression of frameshift mutations. Proc Natl Acad Sci U S A 1998;95:12404-9.
20. Yao X, Buermeyer AB, Narayanan L, et al. Different mutator phenotypes in Mlh1- versus Pms2-deficient mice. Proc Natl Acad Sci U S A 1999;96:6850-5.
21. Jiricny J. Mediating mismatch repair. Nat Genet 2000;24:6-8.
22. Cannavo E, Marra G, Sabates-Bellver J, et al. Expression of the MutL homologue hMLH3 in human cells and its role in DNA mismatch repair. Cancer Res 2005;65:10759-66.
23. Wang TF, Kleckner N, Hunter N. Functional specificity of MutL homologs in yeast: evidence for three Mlh1-based heterocomplexes with distinct roles during meiosis in recombination and mismatch correction. Proc Natl Acad Sci U S A 1999;96:13914-9.
24. Santucci-Darmanin S, Neyton S, Lespinasse F, et al. The DNA mismatch-repair MLH3 protein interacts with MSH4 in meiotic cells, supporting a role for this MutL homolog in mammalian meiotic recombination. Hum Mol Genet 2002;11:1697-706.
25. Lipkin SM, Moens PB, Wang V, et al. Meiotic arrest and aneuploidy in MLH3-deficient mice. Nat Genet 2002;31:385-90.
26. Chen PC, Dudley S, Hagen W, et al. Contributions by MutL homologues Mlh3 and Pms2 to DNA mismatch repair and tumor suppression in the mouse. Cancer Res 2005;65:8662-70.
27. Schweizer P, Moisio AL, Kuismanen SA, et al. Lack of MSH2 and MSH6 characterizes endometrial but not colon carcinomas in hereditary nonpolyposis colorectal cancer. Cancer Res 2001;61:2813-5.
28. Wijnen J, De Leeuw W, Vasen H, et al. Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 1999;23:142-4.
29. Buttin BM, Powell MA, Mutch DG, et al. Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. Am J Hum Genet 2004;74:1262-9.
30. Whelan A, Babb S, Mutch D, et al. MSI in endometrial carcinoma: absence of MLH1 promoter methylation is associated with increased familial risk for cancers. Int J Cancer 2002;99:697-704.
31. Fisher B, Costantino JP, Wickerham DL, et al. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer Inst 1998;90:1371-88.
32. Kaaks R, Lukanova A, Kurzer MS. Obesity, endogenous hormones, and endometrial cancer risk: a synthetic review. Cancer Epidemiol Biomarkers Prev 2002;11:1531-43.
33. Soliman PT, Oh JC, Schmeler KM, et al. Risk factors for young premenopausal women with endometrial cancer. Obstet Gynecol 2005;105:575-80.
34. Buttin BM, Powell MA, Mutch DG, et al. Increased risk for HNPCC-associated synchronous and metachronous malignancies in patients with MSI-positive endometrial carcinoma lacking MLH1 promoter methylation. Clin Cancer Res 2004;10:481-90.
35. Simpkins SB, Bocker T, Swisher EM, et al. MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers. Hum Mol Genet 1999;8:661-6.
36. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863-74.
37. Gill S, Lindor NM, Burgart LJ, et al. Isolated loss of PMS2 expression in colorectal cancers: frequency, patient age, and familial aggregation. Clin Cancer Res 2005;11:6466-71.
38. Madison T, Schottenfeld D, James SA, Schwartz AG, Gruber SB. Endometrial cancer: socioeconomic status and racial/ethnic differences in stage at diagnosis, treatment, and survival. Am J Public Health 2004;94:2104-11.
39. de Jong MM, Hofstra RM, Kooi KA, et al. No association between two MLH3 variants (S845G and P844L) and colorectal cancer risk. Cancer Genet Cytogenet 2004;152:70-1.
40. Stefansson I, Akslen LA, MacDonald N, et al. Loss of hMSH2 and hMSH6 expression is frequent in sporadic endometrial carcinomas with microsatellite instability: a population-based study. Clin Cancer Res 2002;8:138-43.