Pilot investigation of the mutation profile of PIK3CA/PTEN genes (PI3K pathway) in grade 3 endometrial cancer.

Pilot investigation of the mutation profile of PIK3CA/PTEN genes (PI3K pathway) in grade 3 endometrial cancer. Oncol Rep. 2018 Dec 18;: Authors: Malentacchi F, Turrini I, Sorbi F, Projetto E, Castiglione F, Fambrini M, Petraglia F, Pillozzi S, Noci I Abstract Endometrial cancer (EC) comprises a biological and clinical heterogeneous group of tumors. Several genetic alterations are involved in the development and progression of EC, and may be used for targeted therapy, particularly in patients with advanced‑stage EC. In the present study, a combined procedure was developed based on polymerase chain reaction (PCR)‑high resolution melting analysis (HRMA) and Sanger sequencing for the evaluation of somatic mutations in selected phosphoinositide 3‑kinase (PI3K) catalytic subunit α (PIK3CA; exons 1, 9 and 21) and phosphatase and tensin homolog (PTEN; exons 5, 6, 7 and 8) exons. This combined procedure has the specificity and sensitivity of the two techniques, and overcomes their limitations. A pilot study was performed on 18 selected homogenous EC samples, of grade 3 endometrioid subtype (G3 EEC). First, the feasibility of the combined procedure was investigated to properly identify the presence of somatic mutations on PIK3CA and PTEN, the variations identified were analyzed using Catalogue of Somatic Mutations in Cancer, PolyPhen‑2 and Mutation Taster software, and the frequency of mutations/variations was determined in the select...
Source: Oncology Reports - Category: Cancer & Oncology Tags: Oncol Rep Source Type: research