Annotation Detail

Information
Associated Genes
ATM
Associated Variants
ATM p.Asn2875His (p.N2875H) ( ENST00000525729.5, ENST00000452508.7, ENST00000278616.10, ENST00000675843.1, ENST00000601453.3, ENST00000615746.4, ENST00000713844.1 )
ATM p.Asn2875His (p.N2875H) ( ENST00000278616.10, ENST00000452508.7, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1, ENST00000525729.5, ENST00000615746.4 )
Associated Disease
prostate cancer
Source Database
CIViC Evidence
Description
Treatment with the PARP inhibitor olaparib in patients whose prostate cancers were no longer responding to standard treatments and who had defects in DNA-repair genes led to a high response rate. Overall, 4/6 patients (3/5 with no other identified aberrations in DNA repair genes) with several germline and somatic aberrations of ATM had a response. Responders included a single patient with a somatic missense mutation (ATM N2875H) and no other alterations in ATM or other DNA repair genes.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/648
Gene URL
https://civic.genome.wustl.edu/links/genes/69
Variant URL
https://civic.genome.wustl.edu/links/variants/244
Rating
3
Evidence Type
Predictive
Disease
Prostate Cancer
Evidence Direction
Supports
Drug
Olaparib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
26510020
Drugs
Drug NameSensitivitySupported
OlaparibSensitivitytrue