Annotation Detail

Information
Associated Genes
BRCA1
Associated Variants
BRCA1 MUTATION
BRCA1 MUTATION
Associated Disease
Triple Negative Breast Neoplasms
Source Database
DisGeNET
Description
The highest AUC was obtained by shifting the age at diagnosis threshold criterion from 40 to 35 years and by adding a 'triple-negative breast cancer' criterion with an age threshold of 45 years; the specificity increased to 71.2%, whereas the sensitivity remained the same; that is, a referral of fewer patients will lead to the identification of at least the same number of BRCA1/2 mutation carriers.
Pubmed
25138101
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
5
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0222582335105849
Drugs