Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4987188
rs4987188
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE Statistically significant correlations were identified between 4 single nucleotide polymorphisms and the breast cancer risk: rs25487 rs4987188 rs13181 and rs799917. 29209986

2019

dbSNP: rs4987188
rs4987188
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE Statistically significant correlations were identified between 4 single nucleotide polymorphisms and the breast cancer risk: rs25487 rs4987188 rs13181 and rs799917. 29209986

2019

dbSNP: rs4987188
rs4987188
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE MSH2-G322D likely does not cause a MMR defect, although this variant has also been associated with breast cancer as indeed seen in our patient. 19728162

2009

dbSNP: rs4987188
rs4987188
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE MSH2-G322D likely does not cause a MMR defect, although this variant has also been associated with breast cancer as indeed seen in our patient. 19728162

2009

dbSNP: rs4987188
rs4987188
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE Therefore, MMR may play a role in the breast carcinogenesis and the Gly322Asp polymorphism of the hMSH2 gene may be considered as a potential marker in breast cancer. 16252083

2005

dbSNP: rs4987188
rs4987188
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE Therefore, MMR may play a role in the breast carcinogenesis and the Gly322Asp polymorphism of the hMSH2 gene may be considered as a potential marker in breast cancer. 16252083

2005

dbSNP: rs4987188
rs4987188
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
0.020 GeneticVariation BEFREE Structural debilitation of mutation G322D associated with MSH2 and their role in triple negative breast cancer. 30806579

2020

dbSNP: rs4987188
rs4987188
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.020 GeneticVariation BEFREE Structural debilitation of mutation G322D associated with MSH2 and their role in triple negative breast cancer. 30806579

2020

dbSNP: rs4987188
rs4987188
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
0.020 GeneticVariation BEFREE The Gly322Asp polymorphism of the hMSH2 gene may be linked with TNBC occurrence in Polish women. 25134804

2015

dbSNP: rs4987188
rs4987188
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.020 GeneticVariation BEFREE The Gly322Asp polymorphism of the hMSH2 gene may be linked with TNBC occurrence in Polish women. 25134804

2015

dbSNP: rs4987188
rs4987188
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 GeneticVariation BEFREE Our aim was to determine the effect of the single nucleotide polymorphisms (SNP) -93G>A of the MLH1 gene (rs1800734) and Gly322Asp of the MSH2 gene (rs4987188) on the risk of colon cancer (CC) and identify any relationship with clinical factors. 29181059

2017

dbSNP: rs4987188
rs4987188
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 GeneticVariation BEFREE Our aim was to determine the effect of the single nucleotide polymorphisms (SNP) -93G>A of the MLH1 gene (rs1800734) and Gly322Asp of the MSH2 gene (rs4987188) on the risk of colon cancer (CC) and identify any relationship with clinical factors. 29181059

2017

dbSNP: rs4987188
rs4987188
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation BEFREE We did not observe an association between the Asn127Ser and Gly322Asp polymorphisms and cancer risk. 20438357

2010

dbSNP: rs4987188
rs4987188
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation BEFREE We did not observe an association between the Asn127Ser and Gly322Asp polymorphisms and cancer risk. 20438357

2010

dbSNP: rs4987188
rs4987188
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder)
0.010 GeneticVariation BEFREE Our data demonstrate that MSH2 N127S and G322D per se are not sufficient to trigger MMR deficiency. 18470917

2008

dbSNP: rs4987188
rs4987188
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 GeneticVariation BEFREE Therefore, MMR may play a role in the breast carcinogenesis and the Gly322Asp polymorphism of the hMSH2 gene may be considered as a potential marker in breast cancer. 16252083

2005

dbSNP: rs4987188
rs4987188
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 GeneticVariation BEFREE We performed a case-control study to test the association between two polymorphisms in the hMSH2 gene: an A --> G transition at 127 position producing an Asn --> Ser substitution at codon 127 (the Asn127Ser polymorphism) and a G --> A transition at 1032 position resulting in a Gly --> Asp change at codon 322 (the Gly322Asp polymorphism) and breast cancer risk and cancer progression. 16252083

2005