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Gene | PTEN |
Variant | L152P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN L152P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L152P is associated with decreased Pten expression and increased Akt phosphorylation in cultured cells (PMID: 30289966), and results in reduced phosphatase activity in a yeast assay (PMID: 29706350). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN L152P |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933214T>C |
cDNA | c.455T>C |
Protein | p.L152P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933214T>C | c.455T>C | p.L152P | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933214T>C | c.455T>C | p.L152P | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933214T>C | c.455T>C | p.L152P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PTEN L152P PTEN neg | salivary gland carcinoma | resistant | AZD8186 | Preclinical - Cell culture | Actionable | In a preclinical study, salivary ductal carcinoma cells harboring PTEN L152P and loss of Pten protein expression were resistant to AZD8186-induced inhibition of Akt phosphorylation and proliferation in culture (PMID: 30289966). | 30289966 |
PTEN L152P PTEN neg | salivary gland carcinoma | resistant | GSK2636771 | Preclinical - Cell culture | Actionable | In a preclinical study, salivary ductal carcinoma cells harboring PTEN L152P and loss of Pten protein expression were resistant to GSK2636771-induced inhibition of proliferation in culture (PMID: 30289966). | 30289966 |
PTEN L152P PTEN neg | salivary gland carcinoma | resistant | Alpelisib | Preclinical - Cell culture | Actionable | In a preclinical study, salivary ductal carcinoma cells harboring PTEN L152P and loss of Pten protein expression were resistant to Piqray (Alpelisib)-induced inhibition of Akt phosphorylation and proliferation in culture (PMID: 30289966). | 30289966 |
PTEN L152P PTEN neg | salivary gland carcinoma | sensitive | Alpelisib + AZD8186 | Preclinical - Cell culture | Actionable | In a preclinical study, combination of Piqray (Alpelisib) and AZD8186 inhibited Akt phosphorylation and proliferation of salivary ductal carcinoma cells harboring PTEN L152P and loss of Pten protein expression in culture (PMID: 30289966). | 30289966 |
PTEN L152P PTEN neg | salivary gland carcinoma | sensitive | Pictilisib | Preclinical - Cell culture | Actionable | In a preclinical study, Pictilisib (GDC-0941) inhibited Akt phosphorylation and proliferation of salivary ductal carcinoma cells harboring PTEN L152P and loss of Pten protein expression in culture (PMID: 30289966). | 30289966 |