Skip to main content
Top
Published in: Tumor Biology 6/2014

01-06-2014 | Research Article

Association between MSH6 G39E polymorphism and cancer susceptibility: a meta-analysis of 7,046 cases and 34,554 controls

Authors: Zuming Li, Lihua Kong, Ling Yu, Jiao Huang, Ke Wang, Shi Chen, Miao Yu, Sheng Wei

Published in: Tumor Biology | Issue 6/2014

Login to get access

Abstract

Although the MSH6 G39E polymorphism is considered to be a biomarker of hereditary nonpolyposis colorectal cancer (HNPCC), many studies have also found that it may be associated with increased risks of lung, breast, and pancreatic cancers, with inconsistent estimated risks. Here, we performed a comprehensive meta-analysis to assess the associations. We searched published literature from MEDLINE, EMBASE, and CNKI for eligible publications up to Dec. 5, 2013. The final meta-analysis included 10 published studies of 7,046 cases and 34,554 controls for MSH6 G39E. Overall, no significant association was detected between MSH6 G39E and cancer risk (GE + EE vs. GG: OR = 0.92, 95 % CI = 0.81–1.04). Further stratifications, however, showed the MSH6 G39E variant is associated with a decreased risk for cancer in population-based studies (GE + EE vs. GG: OR = 0.80, 95 % CI = 0.60–0.91), and in studies having utilizing large sample sizes (GE + EE vs. GG: OR = 0.87, 95 % CI = 0.85–0.99). No potential publication bias was found among studies. The present meta-analysis identified some statistical evidence for an association between the MSH6 G39E polymorphism and risk of cancer. However, this finding warrants additional validation in large and well-designed prospective studies in the future.
Literature
1.
go back to reference Imyanitov EN, Togo AV, Hanson KP. Searching for cancer-associated gene polymorphisms: promises and obstacles. Cancer Lett. 2004;204:3–14.CrossRefPubMed Imyanitov EN, Togo AV, Hanson KP. Searching for cancer-associated gene polymorphisms: promises and obstacles. Cancer Lett. 2004;204:3–14.CrossRefPubMed
2.
go back to reference Huang WY, Berndt SI, Kang D, Chatterjee N, Chanock SJ, Yeager M, et al. Nucleotide excision repair gene polymorphisms and risk of advanced colorectal adenoma: Xpc polymorphisms modify smoking-related risk. Cancer Epidemiol Biomarkers Prev. 2006;15:306–11.CrossRefPubMed Huang WY, Berndt SI, Kang D, Chatterjee N, Chanock SJ, Yeager M, et al. Nucleotide excision repair gene polymorphisms and risk of advanced colorectal adenoma: Xpc polymorphisms modify smoking-related risk. Cancer Epidemiol Biomarkers Prev. 2006;15:306–11.CrossRefPubMed
3.
go back to reference Hu Z, Shao M, Yuan J, Xu L, Wang F, Wang Y, et al. Polymorphisms in DNA damage binding protein 2 (ddb2) and susceptibility of primary lung cancer in the Chinese: a case-control study. Carcinogenesis. 2006;27:1475–80.CrossRefPubMed Hu Z, Shao M, Yuan J, Xu L, Wang F, Wang Y, et al. Polymorphisms in DNA damage binding protein 2 (ddb2) and susceptibility of primary lung cancer in the Chinese: a case-control study. Carcinogenesis. 2006;27:1475–80.CrossRefPubMed
4.
go back to reference Garcia-Closas M, Malats N, Real FX, Welch R, Kogevinas M, Chatterjee N, et al. Genetic variation in the nucleotide excision repair pathway and bladder cancer risk. Cancer Epidemiol Biomarkers Prev. 2006;15:536–42.CrossRefPubMed Garcia-Closas M, Malats N, Real FX, Welch R, Kogevinas M, Chatterjee N, et al. Genetic variation in the nucleotide excision repair pathway and bladder cancer risk. Cancer Epidemiol Biomarkers Prev. 2006;15:536–42.CrossRefPubMed
5.
go back to reference Berndt SI, Platz EA, Fallin MD, Thuita LW, Hoffman SC, Helzlsouer KJ. Mismatch repair polymorphisms and the risk of colorectal cancer. International journal of cancer Journal international du cancer. 2007;120:1548–54.CrossRefPubMed Berndt SI, Platz EA, Fallin MD, Thuita LW, Hoffman SC, Helzlsouer KJ. Mismatch repair polymorphisms and the risk of colorectal cancer. International journal of cancer Journal international du cancer. 2007;120:1548–54.CrossRefPubMed
6.
go back to reference Buttin BM, Powell MA, Mutch DG, Babb SA, Huettner PC, Edmonston TB, 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.PubMedCentralCrossRefPubMed Buttin BM, Powell MA, Mutch DG, Babb SA, Huettner PC, Edmonston TB, 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.PubMedCentralCrossRefPubMed
7.
go back to reference Cederquist K, Emanuelsson M, Wiklund F, Golovleva I, Palmqvist R, Gronberg H. Two Swedish founder msh6 mutations, one nonsense and one missense, conferring high cumulative risk of lynch syndrome. Clin Genet. 2005;68:533–41.CrossRefPubMed Cederquist K, Emanuelsson M, Wiklund F, Golovleva I, Palmqvist R, Gronberg H. Two Swedish founder msh6 mutations, one nonsense and one missense, conferring high cumulative risk of lynch syndrome. Clin Genet. 2005;68:533–41.CrossRefPubMed
9.
go back to reference Jenkins MA. Role of msh6 and pms2 in the DNA mismatch repair process and carcinogenesis. Surg Oncol Clin N Am. 2009;18:625–36.CrossRefPubMed Jenkins MA. Role of msh6 and pms2 in the DNA mismatch repair process and carcinogenesis. Surg Oncol Clin N Am. 2009;18:625–36.CrossRefPubMed
10.
go back to reference Wu X, Khalpey Z, Cascalho M. Cellular physiology of mismatch repair. Curr Pharm Des. 2004;10:4121–6.CrossRefPubMed Wu X, Khalpey Z, Cascalho M. Cellular physiology of mismatch repair. Curr Pharm Des. 2004;10:4121–6.CrossRefPubMed
11.
go back to reference Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, et al. Germline mutation of msh6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet. 1997;17:271–2.CrossRefPubMed Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, et al. Germline mutation of msh6 as the cause of hereditary nonpolyposis colorectal cancer. Nat Genet. 1997;17:271–2.CrossRefPubMed
12.
go back to reference Kolodner RD, Tytell JD, Schmeits JL, Kane MF, Gupta RD, Weger J, et al. Germ-line msh6 mutations in colorectal cancer families. Cancer Res. 1999;59:5068–74.PubMed Kolodner RD, Tytell JD, Schmeits JL, Kane MF, Gupta RD, Weger J, et al. Germ-line msh6 mutations in colorectal cancer families. Cancer Res. 1999;59:5068–74.PubMed
13.
go back to reference Wu Y, Berends MJ, Mensink RG, Kempinga C, Sijmons RH, van Der Zee AG, et al. Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with msh6 germline mutations. Am J Hum Genet. 1999;65:1291–8.PubMedCentralCrossRefPubMed Wu Y, Berends MJ, Mensink RG, Kempinga C, Sijmons RH, van Der Zee AG, et al. Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with msh6 germline mutations. Am J Hum Genet. 1999;65:1291–8.PubMedCentralCrossRefPubMed
14.
go back to reference Curtin K, Samowitz WS, Wolff RK, Caan BJ, Ulrich CM, Potter JD, et al. Msh6 g39e polymorphism and CpG island methylator phenotype in colon cancer. Mol Carcinog. 2009;48:989–94.PubMedCentralCrossRefPubMed Curtin K, Samowitz WS, Wolff RK, Caan BJ, Ulrich CM, Potter JD, et al. Msh6 g39e polymorphism and CpG island methylator phenotype in colon cancer. Mol Carcinog. 2009;48:989–94.PubMedCentralCrossRefPubMed
15.
go back to reference Smith TR, Levine EA, Freimanis RI, Akman SA, Allen GO, Hoang KN, et al. Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Carcinogenesis. 2008;29:2132–8.PubMedCentralCrossRefPubMed Smith TR, Levine EA, Freimanis RI, Akman SA, Allen GO, Hoang KN, et al. Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Carcinogenesis. 2008;29:2132–8.PubMedCentralCrossRefPubMed
16.
go back to reference Dong X, Li Y, Chang P, Hess KR, Abbruzzese JL, Li D. DNA mismatch repair network gene polymorphism as a susceptibility factor for pancreatic cancer. Mol Carcinog. 2012;51:491–9.PubMedCentralCrossRefPubMed Dong X, Li Y, Chang P, Hess KR, Abbruzzese JL, Li D. DNA mismatch repair network gene polymorphism as a susceptibility factor for pancreatic cancer. Mol Carcinog. 2012;51:491–9.PubMedCentralCrossRefPubMed
17.
go back to reference Conde J, Silva SN, Azevedo AP, Teixeira V, Pina JE, Rueff J, et al. Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study. BMC Cancer. 2009;9:344.PubMedCentralCrossRefPubMed Conde J, Silva SN, Azevedo AP, Teixeira V, Pina JE, Rueff J, et al. Association of common variants in mismatch repair genes and breast cancer susceptibility: a multigene study. BMC Cancer. 2009;9:344.PubMedCentralCrossRefPubMed
18.
go back to reference Landi S, Gemignani F, Canzian F, Gaborieau V, Barale R, Landi D, et al. DNA repair and cell cycle control genes and the risk of young-onset lung cancer. Cancer Res. 2006;66:11062–9.CrossRefPubMed Landi S, Gemignani F, Canzian F, Gaborieau V, Barale R, Landi D, et al. DNA repair and cell cycle control genes and the risk of young-onset lung cancer. Cancer Res. 2006;66:11062–9.CrossRefPubMed
19.
go back to reference Tulupova E, Kumar R, Hanova M, Slyskova J, Pardini B, Polakova V, et al. Do polymorphisms and haplotypes of mismatch repair genes modulate risk of sporadic colorectal cancer? Mutat Res. 2008;648:40–5.CrossRefPubMed Tulupova E, Kumar R, Hanova M, Slyskova J, Pardini B, Polakova V, et al. Do polymorphisms and haplotypes of mismatch repair genes modulate risk of sporadic colorectal cancer? Mutat Res. 2008;648:40–5.CrossRefPubMed
20.
go back to reference Picelli S, Zajac P, Zhou XL, Edler D, Lenander C, Dalen J, et al. Common variants in human CRC genes as low-risk alleles. Eur J Cancer. 2010;46:1041–8.CrossRefPubMed Picelli S, Zajac P, Zhou XL, Edler D, Lenander C, Dalen J, et al. Common variants in human CRC genes as low-risk alleles. Eur J Cancer. 2010;46:1041–8.CrossRefPubMed
22.
go back to reference Begg CB, Mazumdar M. Operating characteristics of a rank correlation test for publication bias. Biometrics. 1994;50:1088–101.CrossRefPubMed Begg CB, Mazumdar M. Operating characteristics of a rank correlation test for publication bias. Biometrics. 1994;50:1088–101.CrossRefPubMed
23.
go back to reference Egger M, Davey Smith G, Schneider M, Minder C. Bias in meta-analysis detected by a simple, graphical test. BMJ (Clinical research ed). 1997;315:629–34.CrossRef Egger M, Davey Smith G, Schneider M, Minder C. Bias in meta-analysis detected by a simple, graphical test. BMJ (Clinical research ed). 1997;315:629–34.CrossRef
24.
go back to reference Campbell PT, Curtin K, Ulrich CM, Samowitz WS, Bigler J, Velicer CM, et al. Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors. Gut. 2009;58:661–7.PubMedCentralCrossRefPubMed Campbell PT, Curtin K, Ulrich CM, Samowitz WS, Bigler J, Velicer CM, et al. Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors. Gut. 2009;58:661–7.PubMedCentralCrossRefPubMed
25.
go back to reference Nicolaides NC, Palombo F, Kinzler KW, Vogelstein B, Jiricny J. Molecular cloning of the n-terminus of GTBP. Genomics. 1996;31:395–7.CrossRefPubMed Nicolaides NC, Palombo F, Kinzler KW, Vogelstein B, Jiricny J. Molecular cloning of the n-terminus of GTBP. Genomics. 1996;31:395–7.CrossRefPubMed
28.
go back to reference Parc YR, Halling KC, Wang L, Christensen ER, Cunningham JM, French AJ, et al. Hmsh6 alterations in patients with microsatellite instability-low colorectal cancer. Cancer Res. 2000;60:2225–31.PubMed Parc YR, Halling KC, Wang L, Christensen ER, Cunningham JM, French AJ, et al. Hmsh6 alterations in patients with microsatellite instability-low colorectal cancer. Cancer Res. 2000;60:2225–31.PubMed
29.
go back to reference Samowitz WS, Curtin K, Wolff RK, Albertsen H, Sweeney C, Caan BJ, et al. The mlh1–93 g>a promoter polymorphism and genetic and epigenetic alterations in colon cancer. Genes Chromosom Cancer. 2008;47:835–44.PubMedCentralCrossRefPubMed Samowitz WS, Curtin K, Wolff RK, Albertsen H, Sweeney C, Caan BJ, et al. The mlh1–93 g>a promoter polymorphism and genetic and epigenetic alterations in colon cancer. Genes Chromosom Cancer. 2008;47:835–44.PubMedCentralCrossRefPubMed
Metadata
Title
Association between MSH6 G39E polymorphism and cancer susceptibility: a meta-analysis of 7,046 cases and 34,554 controls
Authors
Zuming Li
Lihua Kong
Ling Yu
Jiao Huang
Ke Wang
Shi Chen
Miao Yu
Sheng Wei
Publication date
01-06-2014
Publisher
Springer Netherlands
Published in
Tumor Biology / Issue 6/2014
Print ISSN: 1010-4283
Electronic ISSN: 1423-0380
DOI
https://doi.org/10.1007/s13277-014-1798-z

Other articles of this Issue 6/2014

Tumor Biology 6/2014 Go to the issue
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine