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Gene | PTEN |
Variant | R130* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN R130* results in a premature truncation of the Pten protein at amino acid 130 of 403 within the phosphatase tensin-type domain (UniProt.org). R130* confers a loss of function to the Pten protein as demonstrated by loss of Pten expression in a patient sample (PMID: 32610572), demonstrates reduced Pten protein stability and fails to suppress Akt phosphorylation in cell culture (PMID: 32350270), and results in decreased p53 signaling and increased DNA damage in xenografts (PMID: 24721394), and increased transformation ability compared to wild-type Pten in two different cell lines in culture (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN R130* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933147C>T |
cDNA | c.388C>T |
Protein | p.R130* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87933147C>T | c.388C>T | p.R130* | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933147C>T | c.388C>T | p.R130* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933147C>T | c.388C>T | p.R130* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PTEN R130* | follicular thyroid carcinoma | sensitive | MK2206 | Preclinical - Cell culture | Actionable | In a preclinical study, MK2206 inhibited AKT activation, proliferation, and growth of thyroid cancer cell lines with PI3K/AKT pathway alterations in culture, including an follicular thyroid cancer cell line harboring PTEN R130* and loss of one PTEN allele (PMID: 21289267). | 21289267 |
PTEN R130* | Her2-receptor negative breast cancer | predicted - resistant | Alpelisib + Letrozole | Case Reports/Case Series | Actionable | In a Phase I/II trial, combination of Piqray (Alpelisib) and Femara (letrozole) resulted in no clinical benefit in a patient with hormone receptor positive, ERBB2 (HER2)-negative breast cancer harboring PTEN R130* (PMID: 32864625; NCT01870505). | 32864625 |