A novel BRCA2 pathogenic variant c.7094_7100del (p.His2365LeufsTer9) in an Italian family with hereditary breast cancer

D. Dell’Edera, A. Allegretti, F. La Rocca, C. Centoducati, B. Persia

Unit of Medical Genetics and Immunogenetics, Madonna delle Grazie Hospital, Matera, Italy. usdelledera@asmbasilicata.it

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• Genetics
• Oncology

BACKGROUND: Breast cancer is the most common type of malignancy and the foremost cause of tumor-related death in women. The two most well-known genes linked to hereditary breast cancer are BRCA1 (MIM#113705) and BRCA2 (MIM#600185). Germline mutations in the tumor-suppressor genes are found in a proportion of this group.

CASE REPORT: Family history of breast and ovarian cancer, early-onset breast cancer, and ethnicity constitute the basic criteria for identifying cases affected by BRCA1 or BRCA2 mutations. This study reports a novel BRCA2 pathogenic variant c.7094_7100del (p.His2365LeufsTer9), identified in a family from Basilicata, Italy, with a history of hereditary breast cancer. Genetic tests are available to predict the risk of developing cancer, particularly in cases of hereditary cancer, the predisposition to cancer, and the target organs.

CONCLUSIONS: The identification of this variant expands the spectrum of BRCA2 mutations associated with hereditary breast cancer and highlights the importance of genetic testing and counseling for families with a history of breast cancer.

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