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|Gene Variant Descriptions||ATM K3018Q does not lie within any known functional domains of the Atm protein (UniProt.org). K3018Q has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2023).|
|Associated Drug Resistance|
|Category Variants Paths||
ATM mutant ATM K3018Q
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|ATM mutant||breast cancer||no benefit||Olaparib||Case Reports/Case Series||Actionable||In a Phase II trial (TBCRC 048), Lynparza (olaparib) treatment did not result in an objective response in 4 patients with metastatic breast cancer harboring only germline mutations in ATM (PMID: 33119476; NCT03344965).||33119476|
|ATM mutant||Advanced Solid Tumor||predicted - sensitive||Olaparib||Phase II||Actionable||In a Phase II trial (TAPUR), Lynparza (olaparib) treatment resulted in an objective response rate of 8% and a disease control rate of 25% (9/36, 1 complete response, 2 partial responses, 6 stable disease at 16+ weeks) in patients with advanced solid tumors harboring ATM mutations (Cancer Res 2022;82(12_Suppl):Abstract nr CT110; NCT02693535).||detail...|
|ATM mutant||mantle cell lymphoma||predicted - sensitive||Ibrutinib + Venetoclax||Phase II||Actionable||In a Phase II trial (AIM), distinct molecular profiles were identified in mantle cell lymphoma patients responded to Imbruvica (ibrutinib) and Venclexta (venetoclax) combination therapy compared to those did not respond, with all patients harboring mutations in NSD2 (n=4), UBR5 (n=3), KMT2D (n=3), and 12 of 13 patients harboring mutations in ATM responded to the therapy, while SMARCA4 (n=4), CCND1 (n=2), and NOTCH1 (n=3) alterations were exclusively observed in nonresponders (PMID: 30455436; NCT02471391).||30455436|
|ATM mutant||prostate cancer||sensitive||Olaparib||Phase II||Actionable||In a Phase II clinical trial, 80% (4/5) of metastatic castration-resistant prostate cancer patients with ATM truncation mutations demonstrated response to Lynparza (olaparib) treatment (Cancer Res August 1, 2015 75:CT322).||detail...|
|ATM mutant||prostate cancer||not applicable||N/A||Guideline||Risk Factor||Germline ATM mutations are associated with increased risk of developing prostate cancer (NCCN.org).||detail...|