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Gene | ARID1A |
Variant | Q456* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | ARID1A Q456* results in a premature truncation of the Arid1a protein at amino acid 456 of 2285 (UniProt.org). Q456* confers a loss of function to the Arid1a protein as demonstrated by loss of Arid1a protein expression, disruption of the G2-M cell cycle checkpoint, decreased gamma-H2AX and 53BP1 foci, and decreased efficiency of homologous recombination and single-strand annealing repair of DNA in cultured cells (PMID: 26069190). |
Associated Drug Resistance | |
Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A Q456* |
Transcript | NM_006015.6 |
gDNA | chr1:g.26731167C>T |
cDNA | c.1366C>T |
Protein | p.Q456* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006015.5 | chr1:g.26731167C>T | c.1366C>T | p.Q456* | RefSeq | GRCh38/hg38 |
NM_139135.3 | chr1:g.26731167C>T | c.1366C>T | p.Q456* | RefSeq | GRCh38/hg38 |
NM_139135 | chr1:g.26731167C>T | c.1366C>T | p.Q456* | RefSeq | GRCh38/hg38 |
NM_006015.6 | chr1:g.26731167C>T | c.1366C>T | p.Q456* | RefSeq | GRCh38/hg38 |
NM_139135.4 | chr1:g.26731167C>T | c.1366C>T | p.Q456* | RefSeq | GRCh38/hg38 |
NM_006015 | chr1:g.26731167C>T | c.1366C>T | p.Q456* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ARID1A Q456* | colorectal cancer | sensitive | Olaparib | Preclinical | Actionable | In a preclinical study, Lynparza (olaparib) inhibited proliferation and colony formation of a colorectal cancer cell line harboring ARID1A Q456* in culture (PMID: 26069190). | 26069190 |
ARID1A Q456* | colorectal cancer | sensitive | Talazoparib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, Talzenna (talazoparib) inhibited colony formation and proliferation of a human colorectal cancer cell line harboring ARID1A Q456* in culture and inhibited tumor formation in colorectal cancer xenografts harboring ARID1A Q456* (PMID: 26069190). | 26069190 |
ARID1A Q456* | colorectal cancer | sensitive | Rucaparib | Preclinical - Cell culture | Actionable | In a preclinical study, Rubraca (rucaparib) treatment resulted in increased apoptosis of colorectal cancer cells harboring ARID1A Q456* in culture (PMID: 26069190). | 26069190 |
ARID1A Q456* | colorectal cancer | sensitive | Dasatinib | Preclinical - Cell culture | Actionable | In a preclinical study, a colorectal cancer cell line homozygously expressing ARID1A Q456* demonstrated sensitivity to treatment with Sprycel (dasatinib) in culture (PMID: 27364904). | 27364904 |
ARID1A Q456* | colorectal cancer | sensitive | VE-821 | Preclinical - Cell culture | Actionable | In a preclinical study, colorectal cancer cells homozygous for ARID1A Q456* were sensitive to VE-821 in in vitro assays, demonstrating decrease cell survival (PMID: 27958275). | 27958275 |
ARID1A Q456* | colorectal cancer | sensitive | Berzosertib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, Berzosertib (VX-970) treatment in colorectal cancer cells homozygous for ARID1A Q456* resulted in decreased cell survival in culture, and tumor growth inhibition in cell line xenograft models (PMID: 27958275). | 27958275 |