Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
ERBB2 AMPLIFICATION ( ENST00000269571.10 )
ERBB2 AMPLIFICATION ( ENST00000269571.10 )
Associated Disease
endometrial serous adenocarcinoma
Source Database
CIViC Evidence
Description
HER2 expression in uterine serous papillary carcinoma (USPC) is thought to be associated with poor prognosis and may act as a targetable driver mutation in this cancer. HER2 overexpression in USPC is more common in African American women. This report covered 2 African American patients, the first of which presented high-grade endometrial adenocarcinoma with IHC3+ HER2-positivity as well as positivity by FISH. Prior treatment involved surgery and chemotherapy. Treatment with pacitaxel/carboplatin with trastuzumab showed clear clinical improvement assessed by CT scan and drop in CA-125 levels from 988 to 7.9 U/mL. The second patient had USPC, and was treated with surgery and radiation. Trastuzumab monotheraby was then administered. After 7 months of treatment, the patient showed no sign of disease progression and CA-125 had dropped from 144 to 41 U/mL. The investigators conclude there is promise in trastuzumab-based therapies in advanced endometrial cancers, including USPC.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1097
Gene URL
https://civic.genome.wustl.edu/links/genes/20
Variant URL
https://civic.genome.wustl.edu/links/variants/306
Rating
4
Evidence Type
Predictive
Disease
Endometrial Serous Adenocarcinoma
Evidence Direction
Supports
Drug
Trastuzumab
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
18555254
Drugs
Drug NameSensitivitySupported
TrastuzumabSensitivitytrue