Annotation Detail

Information
Associated Genes
ERRFI1
Associated Variants
ERRFI1 p.Glu384Ter (p.E384*) ( ENST00000377482.10, ENST00000474874.5, ENST00000467067.1 )
ERRFI1 p.Glu384Ter (p.E384*) ( ENST00000377482.10, ENST00000467067.1, ENST00000474874.5 )
Associated Disease
cholangiocarcinoma
Source Database
CIViC Evidence
Description
An ERRFI1 (E384X) was detected in a patient with metastatic, recurrent/refractory cholangiocarcinoma (allelic fraction 11%) without any mutations or amplifications in other EGFR signaling members such as EGFR and BRAF. The patient was treated with erlotinib 150 mg orally/daily. After 3 months, RECIST v1.1 partial response evidenced by a decrease of 58% in the sum of largest diameters was observed.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1724
Gene URL
https://civic.genome.wustl.edu/links/genes/12271
Variant URL
https://civic.genome.wustl.edu/links/variants/691
Rating
2
Evidence Type
Predictive
Disease
Cholangiocarcinoma
Evidence Direction
Supports
Drug
Erlotinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
24550739
Drugs
Drug NameSensitivitySupported
ErlotinibSensitivitytrue