Annotation Detail

Information
Associated Genes
BRCA1
Associated Variants
BRCA1 MUTATION
BRCA1 MUTATION
Associated Disease
Hereditary Breast and Ovarian Cancer Syndrome
Source Database
DisGeNET
Description
Detection of mutations within other genes than BRCA1 and BRCA2 highlights the genetic heterogeneity of HBOC.
Pubmed
24549055
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
10
Original source reporting the Gene Disease association
BeFree,CLINVAR,CTD_human,ORPHANET
DisGENET score for the Gene Disease association
0.419988653729747
Drugs