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Gene | PTEN |
Variant | Y174H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN Y174H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y174H has been identified in the scientific literature (PMID: 32376656), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN Y174H |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952145T>C |
cDNA | c.520T>C |
Protein | p.Y174H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87952145T>C | c.520T>C | p.Y174H | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87952145T>C | c.520T>C | p.Y174H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PTEN Y174H PTEN K263* | colorectal cancer | predicted - sensitive | Olaparib | Preclinical - Patient cell culture | Actionable | In a preclinical study, Lynparza (olaparib) inhibited cell proliferation in a patient-derived colorectal cancer organoid harboring PTEN Y174H and K263*, along with PIK3CA N1068fs, in culture (PMID: 32376656). | 32376656 |
PTEN Y174H PTEN K263* | colorectal cancer | predicted - sensitive | Rucaparib | Preclinical - Patient cell culture | Actionable | In a preclinical study, Rubraca (rucaparib) inhibited cell proliferation in a patient-derived colorectal cancer organoids harboring PTEN Y174H and K263*, along with PIK3CA N1068fs, in culture (PMID: 32376656). | 32376656 |
PIK3CA N1068Kfs*5 PTEN Y174H PTEN K263* | colorectal cancer | predicted - sensitive | Alpelisib | Preclinical - Patient cell culture | Actionable | In a preclinical study, Piqray (alpelisib) inhibited cell proliferation in a patient-derived colorectal cancer organoid harboring PIK3CA N1068Kfs*5, PTEN Y174H, and PTEN K263* in culture (PMID: 32376656). | 32376656 |
PIK3CA N1068Kfs*5 PTEN Y174H PTEN K263* | colorectal cancer | predicted - sensitive | Taselisib | Preclinical - Patient cell culture | Actionable | In a preclinical study, Taselisib (GDC-0032) inhibited cell proliferation in a patient-derived colorectal cancer organoid harboring PIK3CA N1068Kfs*5, PTEN Y174H, and PTEN K263* in culture (PMID: 32376656). | 32376656 |