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
Carcinoma of male breast
Source Database
DisGeNET
Description
Association between the BRCA2 N372H variant and male breast cancer risk: a population-based case-control study in Tuscany, Central Italy.
Pubmed
17767707
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.017567776815099
Year of publication
2007
Drugs