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Gene PTEN
Variant A72fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN A72fs results in a change in the amino acid sequence of the Pten protein beginning at aa 72 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). A72fs results in lack of protein expression in culture (PMID: 21358673), and due to the effects of other truncation mutations downstream of A72 (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 A72fs

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Transcript NM_000314.8
gDNA chr10:g.(87931049_87931050)
cDNA c.(214_213)
Protein p.A72fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.(87931049_87931050) c.(214_213) p.A72fs RefSeq GRCh38/hg38
NM_000314.6 chr10:g.(87931049_87931050) c.(214_213) p.A72fs RefSeq GRCh38/hg38
NM_000314 chr10:g.87931051_87931052delCT c.215_216delCT p.A72fs*5 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PTEN A72fs breast cancer sensitive Gedatolisib Preclinical Actionable In a preclinical study, Gedatolisib (PKI-587) inhibited growth of human breast cancer cells harboring PTEN A72fs*5 in culture (PMID: 21325073, PMID: 17314276). 17314276 21325073
PTEN A72fs triple-receptor negative breast cancer sensitive DHM25 Preclinical - Cell culture Actionable In a preclinical study, DHM25 increased cell death in a triple-negative breast cancer cell line harboring PTEN A72fs*5 in culture (PMID: 26237138). 26237138