MLH1-93G > a is a risk factor for MSI colorectal cancer

Carcinogenesis

Volumn 32, Issue 8, 2011, Pages 1157-1161

  Whiffin, Nicola ^a   Broderick, Peter ^a   Lubbe, Steven J ^a   Pittman, Alan M ^a   Penegar, Steven ^a   Chandler, Ian ^a,b   Houlston, Richard S ^a  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MLH1;

ADULT; AGED; ALLELE; ARTICLE; CANCER RISK; COLORECTAL CANCER; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE MARKER; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENE INTERACTION; GENE LOCUS; GENE STRUCTURE; GENETIC ASSOCIATION; GENOTYPE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; META ANALYSIS (TOPIC); PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 79961182813     PISSN: 01433334     EISSN: 14602180     Source Type: Journal    
DOI: 10.1093/carcin/bgr089     Document Type: Article

References (27)

1. Hampel,H. et al. (2005) Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N. Engl. J. Med., 352, 1851-1860.
2. Slattery,M.L. et al. (2000) Associations between cigarette smoking, lifestyle factors, and microsatellite instability in colon tumors. J. Natl Cancer Inst., 92, 1831-1836.
3. Tomlinson,I. et al. (2007) A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21. Nat. Genet., 39, 984-988.
4. Jaeger,E. et al. (2008) Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk. Nat. Genet., 40, 26-28.
5. Tomlinson,I.P. et al. (2008) A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat. Genet., 40, 623-630.
6. Tenesa,A. et al. (2008) Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. Nat. Genet., 40, 631-637.
7. Houlston,R.S. et al. (2008) Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat. Genet., 40, 1426-1435.
8. Houlston,R.S. et al. (2010) Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33. Nat. Genet., 42, 973-977.
9. Allan,J.M. et al. (2008)MLH1 -93G>A promoter polymorphism and risk of mismatch repair deficient colorectal cancer. Int. J. Cancer, 123, 2456-2459.
10. Campbell,P.T. et al. (2009) Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors. Gut, 58, 661-667.
11. Raptis,S. et al. (2007) MLH1 -93G>A promoter polymorphism and the risk ofmicrosatellite-unstable colorectal cancer. J. Natl Cancer Inst., 99, 463-474.
12. Mei,M. et al. (2010) The MLH1 -93 promoter variant influences gene expression. Cancer Epidemiol., 34, 93-95.
13. Penegar,S. et al. (2007) National study of colorectal cancer genetics. Br. J. Cancer, 97, 1305-1309.
14. Boland,C.R. et al. (1998) A National Cancer InstituteWorkshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res., 58, 5248-5257.
15. Chen,H. et al. (2007) Evidence for heritable predisposition to epigenetic silencing of MLH1. Int. J. Cancer, 120, 1684-1688.
16. Hubner,R.A. et al. (2007) Re: MLH1 93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer. J. Natl Cancer Inst., 99, 1490 author reply, 1490-1491.
17. Mrkonjic,M. et al. (2010) Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer. PLoS One, 5, e13314.
18. Santibanez Koref,M. et al. (2010) MLH1 Differential allelic expression in mutation carriers and controls. Ann. Hum. Genet., 74, 479-488.
19. van Roon,E.H. et al. (2010) Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition? BMC Cancer, 10, 180.
20. Worrillow,L.J. et al. (2008) Polymorphic MLH1 and risk of cancer after methylating chemotherapy for Hodgkin lymphoma. J. Med. Genet., 45, 142-146.
21. Yu,J.H. et al. (2006) Mismatch repair polymorphisms and colorectal polyps: hMLH1-93G>Avariant modifies risk associated with smoking. Am. J. Gastroenterol., 101, 1313-1319.
22. Wong,J.J. et al. (2010) Methylationof the 3p22 region encompassing MLH1 is representative of the CpG island methylator phenotype in colorectal cancer. Mod. Pathol, 24, 396-411.
23. Poynter,J.N. et al. (2008) Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening. Cancer Epidemiol. Biomarkers Prev., 17, 3208-3215.
24. Perera,S. et al. (2010) Functional effects of the MLH1-93G>A polymorphism on MLH1/EPM2AIP1 promoter activity. Oncol. Rep, 25, 809-815.
25. Jung,P. et al. (2009) The c-MYC-AP4-p21 cascade. Cell Cycle, 8, 982-989.
26. Mac Partlin,M. et al. (2003) Interactions of the DNA mismatch repair proteins MLH1 and MSH2 with c-MYC and MAX. Oncogene, 22, 819-825.
27. Ku,W.C. et al. (2009) Complementary quantitative proteomics reveals that transcription factor AP-4 mediates E-box-dependent complex formation for transcriptional repression of HDM2. Mol. Cell. Proteomics, 8, 2034-2050.