Annotation Detail

Information
Associated Genes
ESR1
Associated Variants
ESR1 MUTATION
ESR1 MUTATION
Associated Disease
ovarian carcinoma
Source Database
DisGeNET
Description
BRCA mutations were detected in 26 of 92 patients (28%) with ovarian cancer, in 14 of 96 patients (15%) with breast cancer overall, and in 9 of 33 patients (27%) who had tumors that were negative for estrogen receptor, progesterone receptor, and human epithelial growth factor 2 (triple-negative breast cancer).
Pubmed
25236687
Section of the abstract supporting the evidence
RESULTS
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
0.0179151635573
Drugs