Annotation Detail

Information
Associated Genes
BRCA1
Associated Variants
BRCA1 MUTATION
BRCA1 MUTATION
Associated Disease
Malignant neoplasm of male breast
Source Database
DisGeNET
Description
Using a TruSeq amplicon cancer panel, this study evaluated 48 familial MBCs (3 BRCA1 germline mutant, 17 BRCA2 germline mutant and 28 BRCAX) for hotspot somatic mutations and copy number changes in 48 common cancer genes.
Pubmed
25490678
Section of the abstract supporting the evidence
METHODS
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
3
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0114005586273727
Drugs