rs4987188, MSH2

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: 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
Breast Carcinoma
CUI: C0678222
Disease: 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
Malignant neoplasm of breast
CUI: C0006142
Disease: 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
Breast Carcinoma
CUI: C0678222
Disease: 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
Malignant neoplasm of breast
CUI: C0006142
Disease: 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
Breast Carcinoma
CUI: C0678222
Disease: 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
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: 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
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: 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
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: 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
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: 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
Malignant tumor of colon
CUI: C0007102
Disease: 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
Colon Carcinoma
CUI: C0699790
Disease: 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
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.010 GeneticVariation BEFREE We did not observe an association between the Asn127Ser and Gly322Asp polymorphisms and cancer risk. 20438357 2010
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.010 GeneticVariation BEFREE We did not observe an association between the Asn127Ser and Gly322Asp polymorphisms and cancer risk. 20438357 2010
Turcot syndrome (disorder)
CUI: C0265325
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Tumor Progression
CUI: C0178874
Disease: 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