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Gene | ATM |
Variant | inact mut |
Impact List | unknown |
Protein Effect | loss of function |
Gene Variant Descriptions | ATM inact mut indicates that this variant results in a loss of function of the Atm protein. However, the specific amino acid change has not been identified. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ATM LOH ATM inact mut | estrogen-receptor positive breast cancer | predicted - sensitive | Ceralasertib + Olaparib | Case Reports/Case Series | Actionable | In a Phase II trial (OLAPCO), Ceralasertib (AZD6738) and Lynparza (olaparib) combination treatment resulted in an ongoing complete response for over 26 months in a patient with estrogen receptor-positive metastatic breast cancer harboring germline ATM mutation with accompanying loss of heterozygosity (LOH) (PMID: 34527850; NCT02576444). | 34527850 |
ATM dec exp ATM inact mut | mantle cell lymphoma | predicted - sensitive | ART0380 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, ART0380 inhibited cell growth of a mantle cell lymphoma cell line with an inactivating ATM mutation and decreased Atm expression in culture and inhibited tumor growth in a cell line xenograft model (PMID: 38416404). | 38416404 |