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PMID (35004311)
Authors Papageorgiou GI, Fergadis E, Skouteris N, Christakos E, Tsakatikas SA, Lianos E, Kosmas C
Title Case Report: Combination of Olaparib With Chemotherapy in a Patient With ATM-Deficient Colorectal Cancer.
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Abstract Text Poly-ADP ribose polymerase (PARP) inhibitors are constantly increasing in their indications for use as anti-cancer treatment in various neoplasms, the majority of which are linked with BRCA deficiency. Preclinical data support the investigation of PARP inhibitors in other neoplasms exhibiting "BRCAness" or homologous recombination deficiency (HRD) as monotherapy as well as in combination with chemotherapy. With the current report we present the case of a heavily pretreated 55-year-old male patient diagnosed with stage IV ATM-deficient CRC, who was effectively treated with an off-label olaparib-irinotecan combination after exhaustion of all available treatment choices; furthermore, we discuss the existing data providing evidence for the use of PARP inhibitors in ATM-deficient CRC and encourage the implementation of next-generation sequencing (NGS) in patients with no other available treatment options.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATM I1294Nfs*8 ATM E2977Rfs*2 colorectal adenocarcinoma predicted - sensitive Irinotecan + Olaparib Case Reports/Case Series Actionable In a clinical case study, Lynparza (olaparib) and Camptosar (irinotecan) combination treatment resulted in decreased tumor markers and stable disease in the primary and metastatic tumors in a heavily pretreated patient with metastatic colorectal adenocarcinoma harboring ATM E2977Rfs*2, ATM I1294Nfs*8, and KRAS G13D, lasting at least 4 months (PMID: 35004311). 35004311