MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
Disease: Malignant neoplasm of breast ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4987188
rs4987188
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
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
dbSNP: rs4987188
rs4987188
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
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
dbSNP: rs4987188
rs4987188
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
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