Annotation Detail

Information
Associated Genes
BRCA1
Associated Variants
BRCA1 MUTATION
BRCA1 MUTATION
Associated Disease
Hereditary Breast and Ovarian Cancer Syndrome
Source Database
DisGeNET
Description
We sought to determine the proportion of non-founder mutations as a percentage of all mutations in BRCA1 and BRCA2 among AJ patients to inform decisions about HBOC testing strategies in this population.
Pubmed
25476495
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
4
Original source reporting the Gene Disease association
BeFree,CLINVAR,CTD_human,ORPHANET
DisGENET score for the Gene Disease association
0.419988653729747
Drugs