Cossu Rocca, Paolo Alessandro and Orrù, Sandra and Muroni, Maria Rosaria and Sanges, Francesca and Sotgiu, Giovanni and Ena, Sara and Piras, Giovanna and Murgia, Luciano and Manca, Alessandra and Uras, Maria Gabriela and Sarobba, Maria Giuseppa and Urru, Silvana and De Miglio, Maria Rosaria (2015) Analysis of PIK3CA mutations and activation pathways in triple negative breast cancer. PLoS One, Vol. 10 (11), e0141763. ISSN 1932-6203. Article.
Background: Triple Negative Breast Cancer (TNBC) accounts for 12–24% of all breast carcinomas, and shows worse prognosis compared to other breast cancer subtypes. Molecular studies demonstrated that TNBCs are a heterogeneous group of tumors with different clinical and pathologic features, prognosis, genetic-molecular alterations and treatment responsivity. The PI3K/AKT is a major pathway involved in the regulation of cell survival and proliferation, and is the most frequently altered pathway in breast cancer, apparently with different biologic impact on specific cancer subtypes. The most common genetic abnormality is represented by PIK3CA gene activating mutations, with an overall frequency of 20–40%. The aims of our study were to investigate PIK3CA gene mutations on a large series of TNBC, to perform a wider analysis on genetic alterations involving PI3K/AKT and BRAF/RAS/MAPK pathways and to correlate the results with clinical-pathologic data.
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