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Profile Name | APC D1636Gfs*2 |
Gene Variant Detail | |
Relevant Treatment Approaches |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
APC mutant | colorectal cancer | sensitive | JW74 | Preclinical | Actionable | In a preclinical study, JW74 reduced tumor formation and growth in a mouse model of colorectal cancer harboring an APC mutation (PMID: 21199802). | 21199802 |
APC mutant | colorectal cancer | no benefit | G-631 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, G-631 inhibited Wnt pathway signaling in colorectal cancer cell line xenograft models harboring an APC mutation, but demonstrated little anti-tumor activity and led to intestinal toxicity (PMID: 26692561). | 26692561 |
APC mutant | colorectal cancer | predicted - sensitive | K-756 | Preclinical | Actionable | In a preclinical study, K-756 inhibited Wnt signaling and reduced growth of 2/3 tested APC-mutant colorectal cancer cell lines in culture (PMID: 27196752). | 27196752 |
APC mutant | medulloblastoma | not applicable | N/A | Guideline | Prognostic | WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org). | detail... |
APC mutant | colon adenoma | predicted - sensitive | TetMYB | Preclinical | Actionable | In a preclinical study, TetMYB treatment resulted in improved median survival compared to control (356 vs 183 days) in APC-driven mouse models of colon adenoma (Gastroenterology, Volume 154, Issue 6, Supplement 1, May 2018, Pages S-1269). | detail... |
APC mutant | small intestine adenocarcinoma | not applicable | N/A | Guideline | Risk Factor | Familial adenomatous polyposis results from germline mutations in the APC gene, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). | detail... |
APC mutant | desmoid tumor | not applicable | N/A | Guideline | Diagnostic | APC mutations aid the diagnosis of desmoid tumor (NCCN.org). | detail... |
APC mutant | desmoid tumor | predicted - sensitive | Nirogacestat | Phase III | Actionable | In a Phase III trial (DeFi), Ogsiveo (nirogacestat) treatment resulted in improved progression-free survival (HR=0.21, p=0.016) and improved objective response rate (38% (5/13) vs. 13% (2/16)) compared to treatment with placebo in patients with desmoid tumors harboring mutations in APC (J Clin Oncol 42, 2024 (suppl 16; abstr 11558); NCT03785964). | detail... |