A polymorphism in the hMSH2 gene (gIVS12-6T&gt;C) associated with non-Hodgkin lymphomas

Paz‐y‐Miño, César; Pérez, J.Christian; Fiallo, B.Fernanda; Leone, Paola

doi:10.1016/s0165-4608(01)00547-7

Cited by 30 publications

(28 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It has been suggested that one of these polymorphism, IVS12À6T>C, may predispose to some kind of cancer (27,28,32,52,53). In agreement with the previous studies, the IVS12À6C allele was associated with a significantly increased risk of lung adenocarcinoma in the present study.…”

Section: Discussionsupporting

confidence: 92%

See 1 more Smart Citation

Polymorphisms in thehMSH2Gene and the Risk of Primary Lung Cancer

Jung¹,

Choi²,

Park³

et al. 2006

Cancer Epidemiology, Biomarkers &Amp; Prevention

View full text Add to dashboard Cite

Polymorphisms in the DNA repair genes may be associated with differences in the capacity to repair DNA damage, and so this can influence an individual's susceptibility to lung cancer. To test this hypothesis, we investigated the association of hMSH2 À118T>C, IVS1+9G>C, IVS10+12A>G, and IVS12À6T>C genotypes and their haplotypes with the risk of lung cancer in a Korean population. The hMSH2 genotypes were determined in 432 lung cancer patients and in 432 healthy controls who were frequency matched for age and gender. The hMSH2 haplotypes were estimated based on a Bayesian algorithm using the Phase program. The presence of at least one IVS10+12G allele was associated with a significantly decreased risk of adenocarcinoma, as compared with the IVS10+12AA genotype [adjusted odds ratio (OR), 0.59; 95% confidence interval (95% CI), 0.40-0.88; P = 0.01], and the presence of at least one IVS12-6C allele was associated with a significantly increased risk of adenocarcinoma, as compared with the IVS12-6TT genotype (adjusted OR, 1.52; 95% CI, 1.02-2.27; P = 0.04). Consistent with the results of the genotyping analysis, the TGGT haplotype with no risk allele was associated with a significantly decreased risk of adenocarcinoma, as compared with the TCAC haplotype with two risk allele [i.e., IVS10+12A and IVS12-6C allele; adjusted OR, 0.49; 95% CI, 0.30-0.78; P = 0.003 and P c (Bonferroni corrected P value) = 0.012]. The effect of the hMSH2 haplotypes on the risk of adenocarcinoma was statistically significant in the never smokers and younger individuals (adjusted OR, 0.45; 95% CI, 0.27-0.75; P = 0.002 and P c = 0.004; and adjusted OR, 0.44; 95% CI, 0.23-0.85; P = 0.014 and P c = 0.028, respectively) but not in the ever-smokers and older individuals. These results suggest that the hMSH2 polymorphisms and their haplotypes may be an important genetic determinant of adenocarcinoma of the lung, particularly in never smokers. (Cancer Epidemiol Biomarkers Prev 2006;15(4):762-8)

show abstract

Section: Discussionsupporting

confidence: 92%

“…Several polymorphisms have been reported in the hMSH2 gene (20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33). It has been suggested that one of these polymorphism, IVS12À6T>C, may predispose to some kind of cancer (27,28,32,52,53).…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms in thehMSH2Gene and the Risk of Primary Lung Cancer

Jung¹,

Choi²,

Park³

et al. 2006

Cancer Epidemiology, Biomarkers &Amp; Prevention

View full text Add to dashboard Cite

show abstract

“…A number of polymorphisms in the hMSH2 gene have been reported thus far (26). Whereas the functional effects of these polymorphisms are less known, the hMSH2 IVS12-6T>C polymorphism (rs2303428) was shown to be correlated to non-Hodgkin's lymphoma, sporadic and familial colorectal cancer, ulcerative colitis cancer and acute myeloid leukemia (27)(28)(29)(30)(31)(32). It is noteworthy that the presence of at least one hMSH2 IVS12-6C allele was associated with a significantly increased risk of lung adenocarcinoma, as compared with the homozygous IVS12-6T wild-type (26).…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms of mismatch repair gene hMLH1 and hMSH2 and risk of gastric cancer in a Chinese population

et al. 2011

View full text Add to dashboard Cite

Abstract. The purpose of this study was to determine the genotype and allele frequencies of hMLH1 (-93G>A and I219V) and hMSH2 (-118T>C and IVS12-6T>C) polymorphisms in patients with gastric carcinoma and normal controls, and to evaluate the association between these polymorphisms and the risk of gastric cancer in a hospital-based Chinese population. Genomic DNA was extracted from peripheral blood lymphocytes. A TaqMan assay was used to determine the genotype and allele frequencies of hMLH1 and hMSH2 polymorphisms in data obtained from 554 gastric cancer cases and 592 controls. Unconditional logistic regression was used to assess the association between the four single nucleotide polymorphisms (SNPs) and gastric carcinoma risk. No evidence of an association among any of the four polymorphisms and the risk of gastric cancer was observed. However, when gastric cancer patients were further stratified by age, gender, smoking status, alcohol use and clinicopathological characteristics, and compared with the control populations, the combined variant genotype hMSH2 -118T>C (TC+CC) was not only associated with an increased risk of gastric cancer in subgroups of younger subjects [ages ≤63years; adjusted odds ratio (OR)=1.51, 95% confidence interval (CI), 1.05-2.16], but also with diffuse tumors (adjusted OR=1.41, 95% CI, 1.01-1.96). These data indicate that the polymorphisms of -93G>A, I219V and IVS12-6T>C are not associated with the risk of gastric cancer. However, hMSH2-118T>C combined with variant genotypes (TC+CC) may confer a potential risk of gastric cancer in the Chinese population.

show abstract

“…Three previous studies have investigated the role of DNA repair genes in relation to susceptibility of malignant lymphomas (23)(24)(25). Each of these studies was restricted to analysis of one SNP in one gene and risk of malignant lymphomas or nonHodgkin's lymphoma overall [Arg!Gln in XRCC1 (Rs25487): no association (23); gIVS 12-6T!C of the hMSH2 gene: no association in one study (24) and a positive association in one (25)].…”

Section: Discussionmentioning

confidence: 99%

“…Altered DNA repair function has also been implicated in the development of lung, breast, prostate, bladder, and esophageal cancer (22). The possible role of genetic variation of DNA repair in risk of malignant lymphomas has thus far been little studied in humans (23)(24)(25). Only two single nucleotide polymorphisms [SNP; Gln399Arg in the XRCC1 gene (23) and gIVS12-6T>C in the hMSH2 gene (24,25)] have been evaluated previously in relation to risk of malignant lymphomas overall, with mainly negative results (23,24).…”

Section: Introductionmentioning

confidence: 99%

Variation in DNA Repair GenesERCC2, XRCC1, andXRCC3and Risk of Follicular Lymphoma

Smedby

Lindgren

Hjalgrim

et al. 2006

Cancer Epidemiology, Biomarkers &Amp; Prevention

View full text Add to dashboard Cite

The reasons for the positive association between skin cancer and non-Hodgkin's lymphoma are not known but may be due to common susceptibility involving suboptimal DNA repair. Therefore, we investigated selected polymorphisms and haplotypes in three DNA repair genes, previously associated with skin cancer and DNA repair capacity, in risk of follicular lymphoma, including possible gene interaction with cigarette smoking and sun exposure. We genotyped 19 single nucleotide polymorphisms (SNP) in the ERCC2, XRCC1, and XRCC3 genes in 430 follicular lymphoma patients and 605 controls within a population-based casecontrol study in Denmark and Sweden. Odds ratios (OR) and 95% confidence intervals (95% CI) were calculated using unconditional logistic regression and haplotype associations were assessed with a global score test. We observed no associations between variation in the ERCC2 and XRCC1 genes and follicular lymphoma risk. In XRCC3, increased risk of follicular lymphoma was suggested for rare homozygotes of three SNPs [Rs3212024: OR, 1.8 (95% CI, 1.1-2.8); Rs3212038: OR, 1.5 (95% CI, 1.0-2.4); Rs3212090: OR, 1.5 (95% CI, 1.0-2.5)]. These results were strengthened in current cigarette smokers. However, evidence of differences in XRCC3 haplotype distributions between follicular lymphoma cases and controls was weak, both overall and in current smokers. We conclude that polymorphic variation in the XRCC3 gene, but not in ERCC2 or XRCC1, may be of importance for susceptibility to follicular lymphoma, perhaps primarily in current smokers. The link between skin cancer and follicular lymphoma is unlikely to be mediated through common variation in the studied DNA repair gene polymorphisms. (Cancer Epidemiol Biomarkers Prev 2006;15(2):258 -65)

show abstract

A polymorphism in the hMSH2 gene (gIVS12-6T>C) associated with non-Hodgkin lymphomas

Cited by 30 publications

References 29 publications

Polymorphisms in thehMSH2Gene and the Risk of Primary Lung Cancer

Polymorphisms in thehMSH2Gene and the Risk of Primary Lung Cancer

Polymorphisms of mismatch repair gene hMLH1 and hMSH2 and risk of gastric cancer in a Chinese population

Variation in DNA Repair GenesERCC2, XRCC1, andXRCC3and Risk of Follicular Lymphoma

Contact Info

Product

Resources

About