Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
ERBB2 AMPLIFICATION ( ENST00000269571.10 )
ERBB2 AMPLIFICATION ( ENST00000269571.10 )
Associated Disease
endometrial cancer
Source Database
CIViC Evidence
Description
This phase II single arm study assessed trastuzumab monotherapy in HER2 positive endometrial cancers with tumor response as primary endpoint. Participants had stage III, IV or recurrent HER2 positive endometrial cancer. During the trial's initial phase, 23 of 132 patients screened met the criteria of IHC2+ or 3+ or FISH positivity for HER2 status. In the absence of results, the trial entered phase B, where only patients with HER2 amplification by FISH were admitted. The trial ended early due to poor accrual with 11 of 154 screened meeting the phase B criteria. No major objective tumor responses were observed in the study. 28% of the cancers were of the serous type that had shown trastuzumab response in case studies. The investigators note that in other HER2 cancers, such as breast and gastrointestinal, trastuzumab in combination with chemotherapy has been found most effective, and could warrant more study. Currently a clinical trial (NCT01367002) is evaluating carboplatin/paclitaxel with or without trastuzumab in uterine serous cancer.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1098
Gene URL
https://civic.genome.wustl.edu/links/genes/20
Variant URL
https://civic.genome.wustl.edu/links/variants/306
Rating
2
Evidence Type
Predictive
Disease
Endometrial Cancer
Evidence Direction
Does Not Support
Drug
Trastuzumab
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
19840887
Drugs
Drug NameSensitivitySupported
TrastuzumabSensitivityfalse