Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| 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 |