Annotation Detail

Information
Associated Genes
ESR1
Associated Variants
ESR1 MUTATION
ESR1 MUTATION
Associated Disease
Invasive lobular breast carcinoma
Source Database
DisGeNET
Description
Here, we evaluate telomere lengths within 48 primary ILCs with complete characterization of estrogen receptor (ER), progesterone receptor (PR), and Her2 status, including 32 luminal/Her2- (ER+/PR+/Her2-), 8 luminal/Her2+ (ER+/PR+/Her2+), 3 Her2+ (ER-/PR-/Her2+), and 5 triple-negative (ER-/PR-/Her2-) carcinomas.
Pubmed
26092192
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
5
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Drugs