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Gene | APC |
Variant | R1450* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC R1450* results in a premature truncation of the Apc protein at amino acid 1450 of 2843 (UniProt.org). R1450* results in reduced suppression of beta-catenin activity in culture (PMID: 18199528), and therefore, is predicted to lead to a loss of Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC R1450* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839942C>T |
cDNA | c.4348C>T |
Protein | p.R1450* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001127510.2 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001354899.2 | chr5:g.112840026_112840027delAGinsTA | c.4348_4349delAGinsTA | p.R1450* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001354899.1 | chr5:g.112840026_112840027delAGinsTA | c.4348_4349delAGinsTA | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112839942C>T | c.4348C>T | p.R1450* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
APC L665* APC R1450* | colorectal cancer | resistant | G007-LK | Preclinical - Cell culture | Actionable | In a preclinical study, a colorectal cancer cell line harboring APC L665* and APC R1450* demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with G007-LK in culture (PMID: 28179481). | 28179481 |
APC L665* APC R1450* | colorectal cancer | sensitive | IWR-1 | Preclinical - Cell culture | Actionable | In a preclinical study, a colorectal cancer cell line harboring APC L665* and APC R1450* demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with IWR-1 in culture (PMID: 28179481). | 28179481 |
APC L665* APC R1450* | colorectal cancer | sensitive | XAV939 | Preclinical - Cell culture | Actionable | In a preclinical study, a colorectal cancer cell line harboring APC L665* and APC R1450* demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with XAV939 in culture (PMID: 28179481). | 28179481 |
APC R1450* APC LOH | desmoid tumor | predicted - sensitive | Nirogacestat | Case Reports/Case Series | Actionable | In a clinical case study, Ogsiveo (nirogacestat) resulted in tumor regression in a pediatric patient with a desmoid tumor harboring APC R1450* and loss of the APC heterozygosity who stayed on treatment for 6 months (PMID: 32762028). | 32762028 |
APC L665Ifs*8 APC R1450* | colorectal cancer | resistant | G007-LK | Preclinical - Cell culture | Actionable | In a preclinical study, a patient-derived colorectal cancer cell line harboring APC L665Ifs*8 and R1450* was resistant to G007-LK treatment, as demonstrated by failure to inhibit viability in culture (PMID: 37968472). | 37968472 |