|
rs63750138
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.720 |
GeneticVariation
|
BEFREE |
Comprehensive analysis of the mismatch repair genes associated with Lynch syndrome revealed a germline hMSH6 missense mutation 2314C>T (arg772trp) and normal sequencing for hMSH2 and hMLH1.
|
18176851 |
2008 |
|
rs63750138
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.720 |
GeneticVariation
|
BEFREE |
In addition, an amino acid substitution of an arginine residue (c.2314C>T [p.R772W]) conserved throughout a wide variety of mutS homologs has been found in a patient not fulfilling the Bethesda criteria for HNPCC.
|
14974087 |
2004 |
|
rs2020912
|
|
Colorectal Carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
No patients displayed a truncating mutation, and 1 CRC patient harbored a novel missense mutation (V878A).
|
12537658 |
2002 |
|
rs61753793
|
|
Malignant neoplasm of breast
|
|
0.710 |
GeneticVariation
|
BEFREE |
A novel amino acid change, F340S, was found in a patient with sporadic colon and breast cancer and leukemia but was not detected in 246 chromosomes from healthy anonymous blood donors.
|
10699937 |
2000 |
|
rs63750741
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
GeneticVariation
|
BEFREE |
In this study, we show segregation of the putative pathogenic MSH6 missense mutation c.1346T>C p.Leu449Pro with microsatellite instability-high Lynch syndrome-related tumours lacking MSH6 expression in a large 17th century pedigree.
|
16283884 |
2005 |
|
rs786201042
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.710 |
GeneticVariation
|
BEFREE |
We identified an MSH6 mutation (c.10C>T, p.Gln4*) causing Lynch syndrome (LS) in 11 French Canadian (FC) families from the Canadian province of Quebec.
|
25318681 |
2015 |
|
rs1042821
|
|
Colorectal Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
In conclusion, our data suggests thatMSH6 Glu39Gly polymorphism is associated with the risk of developing sporadic colorectal cancer in polish population.
|
28451866 |
2018 |
|
rs1042821
|
|
Malignant neoplasm of colon and/or rectum
|
|
0.030 |
GeneticVariation
|
BEFREE |
In conclusion, our data suggests thatMSH6 Glu39Gly polymorphism is associated with the risk of developing sporadic colorectal cancer in polish population.
|
28451866 |
2018 |
|
rs1042821
|
|
Colorectal Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
These findings suggest that hMSH6 Glu39Gly polymorphism is associated with the risk of developing colorectal cancer in the Polish population, probably due to a defective mismatch repair system.
|
29442465 |
2017 |
|
rs1042821
|
|
Malignant neoplasm of colon and/or rectum
|
|
0.030 |
GeneticVariation
|
BEFREE |
These findings suggest that hMSH6 Glu39Gly polymorphism is associated with the risk of developing colorectal cancer in the Polish population, probably due to a defective mismatch repair system.
|
29442465 |
2017 |
|
rs1042821
|
|
Colorectal Carcinoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
The MSH6 G39E germline polymorphism is not associated with an increased risk of either microsatellite stable or unstable sporadic colorectal cancer.
|
19582761 |
2009 |
|
rs1042821
|
|
Malignant neoplasm of colon and/or rectum
|
|
0.030 |
GeneticVariation
|
BEFREE |
The MSH6 G39E germline polymorphism is not associated with an increased risk of either microsatellite stable or unstable sporadic colorectal cancer.
|
19582761 |
2009 |
|
rs1042821
|
|
Malignant tumor of colon
|
|
0.020 |
GeneticVariation
|
BEFREE |
In microsatellite stable tumors, homozygous carriers of the G39E polymorphism had an increased risk of CIMP+ colon cancer (odds ratio (OR) 2.2, 95% confidence interval (CI) 1.1, 4.2) and BRAF V600E mutation (OR 3.1, 95% CI 1.01, 9.7) in a case-control comparison.
|
19582761 |
2009 |
|
rs1042821
|
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer.
|
19781088 |
2009 |
|
rs1042821
|
|
Malignant tumor of colon
|
|
0.020 |
GeneticVariation
|
BEFREE |
The MSH6 Gly39Glu and MLH1 -93G>A polymorphisms were associated with risk of overall colon and MSI-positive colon cancers, respectively.
|
18523027 |
2009 |
|
rs1042821
|
|
Colon Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
A study was conducted to examine whether MLH1 (-93G>A and Ile219Val) and MSH6 (Gly39Glu) polymorphisms were associated with risk of colon cancer in data from 1609 colon cancer cases and 1972 controls.
|
18523027 |
2009 |
|
rs1042821
|
|
Colon Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
In microsatellite stable tumors, homozygous carriers of the G39E polymorphism had an increased risk of CIMP+ colon cancer (odds ratio (OR) 2.2, 95% confidence interval (CI) 1.1, 4.2) and BRAF V600E mutation (OR 3.1, 95% CI 1.01, 9.7) in a case-control comparison.
|
19582761 |
2009 |
|
rs1042821
|
|
Breast Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Using unconditional logistic regression we found that MLH3 (L844P, G>A) polymorphism GA (Leu/Pro) and AA (Pro/Pro) genotypes were associated with a decreased risk: OR = 0.65 (0.45-0.95) (p = 0.03) and OR = 0.62 (0.41-0.94) (p = 0.03), respectively.Analysis of two-way SNP interaction effects on breast cancer revealed two potential associations to breast cancer susceptibility: MSH3 Ala1045Thr/MSH6 Gly39Glu - AA/TC [OR = 0.43 (0.21-0.83), p = 0.01] associated with a decreased risk; and MSH4 Ala97Thr/MLH3 Leu844Pro - AG/AA [OR = 2.35 (1.23-4.49), p = 0.01], GG/AA [OR = 2.11 (1.12-3,98), p = 0.02], and GG/AG [adjusted OR = 1.88 (1.12-3.15), p = 0.02] all associated with an increased risk for breast cancer.
|
19781088 |
2009 |
|
rs1042821
|
|
Breast Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M.
|
18701435 |
2008 |
|
rs1042821
|
|
Malignant neoplasm of breast
|
|
0.020 |
GeneticVariation
|
BEFREE |
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M.
|
18701435 |
2008 |
|
rs1042821
|
|
Triple Negative Breast Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3 R940Q (rs184967), MSH6 G39E (rs1042821), POLD1 R119H (rs1726801), XRCC1 R194W (rs1799782), and XPC A499V (rs2228000) and/or deficiencies in 3 micronutrients (zinc, folate, and β-carotene).
|
25023197 |
2014 |
|
rs1042821
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
|
0.010 |
GeneticVariation
|
BEFREE |
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.
|
24622885 |
2014 |
|
rs1042821
|
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
The present meta-analysis identified some statistical evidence for an association between the MSH6 G39E polymorphism and risk of cancer.
|
24622885 |
2014 |
|
rs1042821
|
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
The present meta-analysis identified some statistical evidence for an association between the MSH6 G39E polymorphism and risk of cancer.
|
24622885 |
2014 |
|
rs1042821
|
|
Malignant neoplasm of pancreas
|
|
0.010 |
GeneticVariation
|
BEFREE |
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.
|
24622885 |
2014 |