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Gene APC
Variant A1470T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions APC A1470T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1470T has been identified in sequencing studies (PMID: 8242071, PMID: 29523763), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

APC mutant APC A1470T

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Transcript NM_000038.6
gDNA chr5:g.112840002G>A
cDNA c.4408G>A
Protein p.A1470T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354895.2 chr5:g.112840002G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112840002G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112840002G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112840002G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_000038 chr5:g.112840002G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112840002G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001354906.2 chr5:g.112840851G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001354906.1 chr5:g.112840851G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001407456.1 chr5:g.112840251G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001354897.2 chr5:g.112839972G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001407457.1 chr5:g.112840251G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001407454.1 chr5:g.112840251G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001127510 chr5:g.112840002G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001354897.1 chr5:g.112839972G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001407470.1 chr5:g.112840851G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112840002G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112840002G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38
NM_001407455.1 chr5:g.112840251G>A c.4408G>A p.A1470T RefSeq GRCh38/hg38

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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 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 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 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...
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...