Annotation Detail

Information
Associated Genes
ESR1
Associated Variants
ESR1 OVEREXPRESSION ( ENST00000206249.8 )
ESR1 OVEREXPRESSION ( ENST00000206249.8 )
Associated Disease
breast cancer
Source Database
CIViC Evidence
Description
A phase 2 clinical trial evaluated 165 patients with oestrogen receptor positive and HER2-negative breast cancer such that 84 patients received combination therapy of palbociclib plus letrozole and 81 patients received letrozole alone. The combination therapy arm had higher median duration of progression-free survival when compared to the letrozole only group (20.2 months vs. 10.2 months; p<0.0004). A subcategory of patients taking combination therapy, who lacked mutations in p16 or CCND1 (n=34), had an even higher median free survival of 26.1 months. Noticeable side effects in the combination therapy group included neutropenia (54%) leucopenia (19%), fatigue (4%) back pain (2%), diarrhea (2%) and pulmonary embolism (4%).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1541
Gene URL
https://civic.genome.wustl.edu/links/genes/21
Variant URL
https://civic.genome.wustl.edu/links/variants/607
Rating
4
Evidence Type
Predictive
Disease
Breast Cancer
Evidence Direction
Supports
Drug
Palbociclib,Letrozole
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
25524798
Drugs
Drug NameSensitivitySupported
LetrozoleSensitivitytrue
PalbociclibSensitivitytrue