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Gene | PTEN |
Variant | H123P |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN H123P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H123P results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN H123P |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933127A>C |
cDNA | c.368A>C |
Protein | p.H123P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933127A>C | c.368A>C | p.H123P | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933127A>C | c.368A>C | p.H123P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA amp PTEN H123P | triple-receptor negative breast cancer | predicted - sensitive | Alpelisib + Everolimus | Preclinical - Pdx & cell culture | Actionable | In a preclinical study, combination treatment with Piqray (albelisib) and Afinitor (everolimus) synergistically inhibited cell viability of patient-derived triple-negative breast cancer cells harboring PIK3CA amplification and PTEN H123P in culture, and led to inhibition of tumor growth in a patient-derived xenograft (PDX) model (PMID: 36900375). | 36900375 |
PIK3CA amp PTEN H123P | triple-receptor negative breast cancer | predicted - sensitive | Afatinib + Alpelisib | Preclinical - Pdx & cell culture | Actionable | In a preclinical study, combination treatment with Piqray (albelisib) and Gilotrif (afatinib) synergistically inhibited cell viability of patient-derived triple-negative breast cancer cells harboring PIK3CA amplification and PTEN H123P in culture, and led to inhibition of tumor growth in a patient-derived xenograft (PDX) model (PMID: 36900375). | 36900375 |