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| Gene | PTEN |
| Variant | F90Lfs*90 |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | PTEN F90Lfs*90 indicates a shift in the reading frame starting at amino acid 90 and terminating 90 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). F90Lfs*90 has not been characterized, however, due to the effects of other truncation mutations downstream of F90 (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 F90Lfs*90 |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.(87933027_87952165) |
| cDNA | c.(268_540) |
| Protein | p.F90Lfs*90 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.8 | chr10:g.(87933027_87952165) | c.(268_540) | p.F90Lfs*90 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| PTEN F90Lfs*90 | breast cancer | sensitive | MEN1611 | Preclinical - Cell culture | Actionable | In a preclinical study, MEN1611 (CH5132799) inhibited viability in a breast cancer cell line harboring PTEN F90Lfs*90 in culture (PMID: 36913051). | 36913051 |