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Gene | ATM |
Variant | LOH |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | ATM LOH indicates the loss of one parental copy of the ATM gene, resulting in loss of heterozygosity. |
Associated Drug Resistance | |
Category Variants Paths |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ATM P1069fs ATM LOH | salivary gland adenoid cystic carcinoma | 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 22% reduction in target lesions in a patient with adenoid cystic carcinoma of minor salivary gland harboring germline ATM P1069fs with accompanying loss of heterozygosity (LOH), who remained on treatment for over 26 months (PMID: 34527850; NCT02576444). | 34527850 |
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 |