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Gene | APC |
Variant | E853* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC E853* results in a premature truncation of the Apc protein at amino acid 853 of 2843 (UniProt.org). E853* has not been characterized, however, due to the effects of other truncation mutations downstream of E853 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC E853* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112838151G>T |
cDNA | c.2557G>T |
Protein | p.E853* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407450.1 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001354906.1 | chr5:g.112839000G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001407470.1 | chr5:g.112839000G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112838151G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
NM_001354906.2 | chr5:g.112839000G>T | c.2557G>T | p.E853* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
APC E853* APC K1555* | colorectal cancer | sensitive | TASIN-1 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, TASIN-1 efficiently inhibited survival of colorectal cancer cells harboring APC E853* and APC K1555* in culture and inhibited tumor growth in xenograft models (PMID: 27798265). | 27798265 |
APC E853* APC T1556fs | colorectal cancer | resistant | G007-LK | Preclinical - Cell culture | Actionable | In a preclinical study, a colorectal cancer cell line harboring APC E853* and APC T1556fs (reported as APC T1556fs*3) demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with G007-LK in culture (PMID: 28179481). | 28179481 |
APC E853* APC T1556fs | colorectal cancer | resistant | IWR-1 | Preclinical - Cell culture | Actionable | In a preclinical study, a colorectal cancer cell line harboring APC E853* and APC T1556fs (reported as APC T1556fs*3) demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with IWR-1 in culture (PMID: 28179481). | 28179481 |
APC E853* APC T1556fs | colorectal cancer | resistant | XAV939 | Preclinical - Cell culture | Actionable | In a preclinical study, a colorectal cancer cell line harboring APC E853* and APC T1556fs (reported as APC T1556fs*3) demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with XAV939 in culture (PMID: 28179481). | 28179481 |
APC E853* APC T1556Nfs*3 | colorectal cancer | sensitive | STP1002 | Preclinical - Cell culture | Actionable | In a preclinical study, STP1002 inhibited Wnt/beta-catenin signaling and colony formation in a colorectal cancer cell line harboring APC E853* and APC T1556Nfs*3 in culture (PMID: 35849876). | 35849876 |