Gene Variant Detail

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Gene APC
Variant N1819fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions APC N1819fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1819 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N1819fs has been identified in the scientific literature (PMID: 28179481), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2022).
Associated Drug Resistance

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Transcript NM_000038.5
gDNA chr5:g.(112841048_112841049)
cDNA c.(5455_5454)
Protein p.N1819fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000038 chr5:g.(112841048_112841049) c.(5455_5454) p.N1819fs RefSeq GRCh38/hg38
NM_001354905.1 chr5:g.(112841528_112841529) c.(5455_5454) p.N1819fs RefSeq GRCh38/hg38
NM_001127510.2 chr5:g.(112841048_112841049) c.(5455_5454) p.N1819fs RefSeq GRCh38/hg38
NM_000038.5 chr5:g.(112841048_112841049) c.(5455_5454) p.N1819fs RefSeq GRCh38/hg38
NM_001127510 chr5:g.(112841048_112841049) c.(5455_5454) p.N1819fs RefSeq GRCh38/hg38
NM_001354895.1 chr5:g.(112841048_112841049) c.(5455_5454) p.N1819fs RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
APC N1819fs colorectal cancer resistant IWR-1 Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line harboring APC N1819fs (reported as N1819fs*7) and a wild-type copy of APC demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with IWR-1 in culture (PMID: 28179481). 28179481
APC N1819fs APC wild-type colorectal cancer resistant XAV939 Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line harboring APC N1819fs (reported as N1819fs*7) and a wild-type copy of APC demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with XAV939 in culture (PMID: 28179481). 28179481
APC N1819fs APC wild-type colorectal cancer resistant G007-LK Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line harboring APC N1819fs (reported as N1819fs*7) and a wild-type copy of APC demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with G007-LK in culture (PMID: 28179481). 28179481
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 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 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 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 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...
Molecular Profile Protein Effect Treatment Approaches
APC N1819fs unknown
APC N1819fs APC wild-type