rs4987188, MSH2

N. diseases: 11
Disease: Malignant neoplasm of breast ×
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
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
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