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Gene | PTEN |
Variant | L265fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN L265fs results in a change in the amino acid sequence of the Pten protein beginning at aa 265 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L265fs has not been characterized, however, due to the effects of other truncation mutations downstream of L265 (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 L265fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87958010_87958011) |
cDNA | c.(793_792) |
Protein | p.L265fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.(87958010_87958011) | c.(793_792) | p.L265fs | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.(87958010_87958011) | c.(793_792) | p.L265fs | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87958010_87958011) | c.(793_792) | p.L265fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PTEN R142fs PTEN L265fs | ovarian cancer | sensitive | TAS0612 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, TAS0612 inhibited proliferation in a clear cell ovarian cancer cell line harboring PTEN R142fs and L265fs, along with KRAS G13C and PIK3CA H1047Y, in culture and induced tumor regression in a cell line xenograft model (PMID: 37906695). | 37906695 |