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Gene APC
Variant G1339_S1340dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions APC G1339_S1340dup indicates the insertion of two duplicate amino acids, glycine (G)-1339 through serine (S)-1340, in the Apc protein (UniProt.org). G1339_S1340dup has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

APC mutant APC G1339_S1340dup

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Transcript NM_000038.6
gDNA chr5:g.112839609_112839614
cDNA c.4015_4020
Protein p.G1339_S1340
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001127510 chr5:g.112839609_112839614 c.4015_4020 p.G1339_S1340 RefSeq GRCh38/hg38
NM_001407450.1 chr5:g.112839609_112839614 c.4015_4020 p.G1339_S1340 RefSeq GRCh38/hg38
NM_000038.6 chr5:g.112839609_112839614 c.4015_4020 p.G1339_S1340 RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.112839609_112839614 c.4015_4020 p.G1339_S1340 RefSeq GRCh38/hg38
NM_001354895.2 chr5:g.112839609_112839614 c.4015_4020 p.G1339_S1340 RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.112839609_112839614 c.4015_4020 p.G1339_S1340 RefSeq GRCh38/hg38
NM_000038.5 chr5:g.112839609_112839614 c.4015_4020 p.G1339_S1340 RefSeq GRCh38/hg38
NM_000038 chr5:g.112839609_112839614 c.4015_4020 p.G1339_S1340 RefSeq GRCh38/hg38
NM_001127510.3 chr5:g.112839609_112839614 c.4015_4020 p.G1339_S1340 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 desmoid tumor not applicable N/A Guideline Diagnostic APC mutations aid the diagnosis of desmoid tumor (NCCN.org). detail...
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 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 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...
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 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...