Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Asn372His (p.N372H)
(
ENST00000380152.8,
ENST00000530893.7,
ENST00000544455.6,
ENST00000700202.2,
ENST00000713678.1,
ENST00000713680.1 )
BRCA2 p.Asn372His (p.N372H) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- Considering the relevant role of BRCA2 in MBC, we investigated whether the BRCA2 N372H variant, representing the only common non-synonymous polymorphism in BRCA2, might modulate the risk of BC in male populations.
- Pubmed
- 17767707
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2007
Drugs