1. PIK3CA IN BREAST CARCINOMA. A MUTATIONAL ANALYSIS OF SPORADIC AND HEREDITARY CASES
- Author
-
Andrea Cavazzana, Adelaide Caligo, Carlo Della Rocca, Generoso Bevilacqua, Sergio Ricci, Azzurra Lami, Paola Collecchi, Romana Prosperi Porta, Claudio Di Cristofano, Paolo Aretini, Angela Michelucci, G Bertacca, Martina Leopizzi, Nicola Decarli, Giorgio Stanta, Michelucci, A, DI CRISTOFANO, C, Lami, A, Collecchi, P, Caligo, A, Decarli, N, Leopizzi, M, Aretini, P, Bertacca, G, PROSPERI PORTA, R, Ricci, S, DELLA ROCCA, C, Stanta, Giorgio, Bevilacqua, G, and Cavazzana, A.
- Subjects
Oncology ,medicine.medical_specialty ,Class I Phosphatidylinositol 3-Kinases ,Ubiquitin-Protein Ligases ,overall survival ,DNA Mutational Analysis ,Mutation, Missense ,Breast Neoplasms ,Kaplan-Meier Estimate ,Adenocarcinoma ,Biology ,Pathology and Forensic Medicine ,Phosphatidylinositol 3-Kinases ,Exon ,breast cancer ,Internal medicine ,Biomarkers, Tumor ,medicine ,Humans ,molecular biology ,familial carcinoma ,hereditary breast cancer ,pik3ca mutations ,sporadic breast cancer ,neoplasms ,Germ-Line Mutation ,BRCA2 Protein ,Carcinoma, Ductal, Breast ,DNA, Neoplasm ,Cell Biology ,Middle Aged ,Adenocarcinoma, Mucinous ,Survival Rate ,Mutational analysis ,Carcinoma, Lobular ,Italy ,Female ,Lymph Nodes ,Signal transduction ,Apoptosis Regulatory Proteins ,Breast carcinoma - Abstract
The PI3K-Akt cascade is a key signaling pathway involved in cell proliferation, survival, and growth. Activating PIK3CA mutations have been reported in breast carcinoma (BC). The aim of this study was to characterize the PIK3CA mutations at exons 9 and 20 in a series of 176 sporadic and 22 hereditary BCs and to correlate the results with clinicopathologic parameters and survival. In sporadic BC, 68 missense mutations were detected. PIK3CA mutations were significantly associated with ER+ in HER2-negative cases. A higher frequency of PIK3CA mutations was present in lobular carcinoma compared with ductal carcinoma (50% vs. 35%). There was no association between the survival and PIK3CA mutational status. In hereditary BC, PIK3CA mutations were found only in the BRCA2 group. The PIK3CA mutation seems to characterize the luminal-type BC, in both sporadic and BRCA2 mutated forms, and is absent in the basal-type BC, in both the sporadic and BRCA1 mutated forms.
- Published
- 2008