Annotation Detail

Information
Associated Genes
BRCA1
Associated Variants
BRCA1 MUTATION
BRCA1 MUTATION
Associated Disease
Mammary Neoplasms
Source Database
DisGeNET
Description
Further on, we conclude that somatic inactivation of BRCA1 through spliciogenic mutations is, at best, a rare mechanism in breast carcinogenesis, albeit our data detects an excess of likely inactivating AS events in breast tumor samples.
Pubmed
25884417
Section of the abstract supporting the evidence
CONCLUSIONS
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
13
Original source reporting the Gene Disease association
BeFree,CTD_human,GAD,LHGDN
DisGENET score for the Gene Disease association
0.326416560125732
Drugs