Annotation Detail

Information
Associated Genes
ESR1
Associated Variants
ESR1 MUTATION
ESR1 MUTATION
Associated Disease
Triple Negative Breast Neoplasms
Source Database
DisGeNET
Description
Triple negative breast cancers (TNBCs) are defined by the lack of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 expression, and are treated with cytotoxic chemotherapy such as paclitaxel or gemcitabine, with a durable response rate of less than 20%.
Pubmed
25453096
Section of the abstract supporting the evidence
ALL_TEXT_1/3
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
1
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0244297684872273
Drugs