Annotation Detail
Information
- Associated Genes
- MSH2
- Associated Variants
-
MSH2 p.Ala636Pro (p.A636P)
(
ENST00000233146.7,
ENST00000406134.5,
ENST00000543555.6,
ENST00000645506.1,
ENST00000713854.1,
ENST00000713919.1 )
MSH2 p.Ala636Pro (p.A636P) ( ENST00000233146.7, ENST00000406134.5, ENST00000543555.6, ENST00000645506.1, ENST00000713854.1, ENST00000713919.1 ) - Associated Disease
- colorectal carcinoma
- Source Database
- DisGeNET
- Description
- Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashkenazi Jewish women with an endometrial cancer, especially if the cancer is detected before the age of 70 years in women with a personal or family history of colorectal cancer.
- Pubmed
- 18674656
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0632459561947107
- Year of publication
- 2008
Drugs