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Profile Name | PTEN R130* |
Gene Variant Detail | |
Relevant Treatment Approaches | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |
Molecular Profile | Indication/Tumor Type | Response Type | Relevant Treatment Approaches | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|---|
PTEN R130* | follicular thyroid carcinoma | sensitive | Akt Inhibitor (Pan) | 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 |