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Gene | APC |
Variant | G907R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC G907R does not lie within any known functional domains of the Apc protein (UniProt.org). G907R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC G907R |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838313G>A |
cDNA | c.2719G>A |
Protein | p.G907R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407450.1 | chr5:g.112838313G>A | c.2719G>A | p.G907R | RefSeq | GRCh38/hg38 |
NM_001354902.1 | chr5:g.112838586G>C | c.2719G>C | p.G907R | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112838313G>A | c.2719G>A | p.G907R | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112838313G>A | c.2719G>A | p.G907R | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112838313G>A | c.2719G>A | p.G907R | RefSeq | GRCh38/hg38 |
NM_001354902.2 | chr5:g.112838586G>C | c.2719G>C | p.G907R | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112838313G>A | c.2719G>A | p.G907R | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112838313G>A | c.2719G>A | p.G907R | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112838313G>A | c.2719G>A | p.G907R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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 | 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 | 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 | 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 | 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... |