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Gene | PTEN |
Variant | P89fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN P89fs results in a change in the amino acid sequence of the Pten protein beginning at aa 89 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). P89fs has not been characterized, however, due to the effects of other truncation mutations downstream of P89 (PMID: 10468583), is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN P89fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87933023_87933024) |
cDNA | c.(265_264) |
Protein | p.P89fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.(87933023_87933024) | c.(265_264) | p.P89fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PTEN P89fs | breast cancer | sensitive | TAS0612 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, TAS0612 inhibited proliferation in a breast cancer cell line harboring PTEN P89fs in culture and induced tumor regression in a cell line xenograft model (PMID: 37906695). | 37906695 |