Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily

• Published in: Cancer management and research Vol. 14; pp. 1341 - 1352
• Main Authors: Stella, Stefania, Vitale, Silvia Rita, Martorana, Federica, Massimino, Michele, Pavone, Giuliana, Lanzafame, Katia, Bianca, Sebastiano, Barone, Chiara, Gorgone, Cristina, Fichera, Marco, Manzella, Livia
• Format: Journal Article
• Language: English
• Published: New Zealand Dove 01.01.2022; Dove Medical Press
• Subjects: brca1/2; hereditary breast cancer; ki-67; ngs; Original Research; tumor grading; BRCA1/2; Ki-67; NGS; hereditary breast cancer; tumor grading
• ISSN: 1179-1322; 1179-1322
• DOI: 10.2147/CMAR.S348529

Germline mutations of and are associated with a defined lifetime risk of breast (BC), ovarian (OC) and other cancers. Testing genes is pivotal to assess individual risk, but also to pursue preventive approaches in healthy carriers and tailored treatments in tumor patients. The prevalence of and alterations varies broadly across different geographic regions and, despite data about pathogenic variants among Sicilian families exist, studies specifically addressing eastern Sicily population are lacking. The aim of our study was to investigate the incidence and distribution of pathogenic germline alterations in a cohort of BC patients from eastern Sicily and to evaluate their associations with specific BC features. Mutational status was assessed in a cohort of 389 BC patients, using next generation sequencing. The presence of alterations was correlated with tumor grading and proliferation index. Overall, 35 patients (9%) harbored a pathogenic variant, 17 (49%) in and 18 (51%) in alterations were prevalent among triple negative BC patients, whereas mutations were more common in subjects with luminal B BC. Tumor grading and proliferation index were both significantly higher among subjects with variants compared to non-carriers. Our findings provide an overview about mutational status among BC patients from eastern Sicily and confirm the role of NGS analysis to identify hereditary BC patients. Overall, these data are consistent with previous evidences supporting screening to properly prevent and treat cancer among mutation carriers.