Inherited Susceptibility of Breast and Ovarian Cancer BRCA1 BRCA2 LAB

Breast cancer is the most common cancer in women and is a leading cause of cancer mortality in women. About 10% of all breast cancers are eredo-familial and may be associated with predisposing germline mutations that generally involve the BRCA1 and BRCA2 genes. In the presence of pathogenetic mutations in the BRCA genes (frequently associated with the Hereditary Breast / Ovarian Cancer syndrome - HBOC) there is an increased risk not only of developing early-onset breast carcinoma, but also an increased risk of contralateral breast cancer, relapses, and development of other neoplasms, including in particular ovarian cancer.

Therefore, the accurate and early identification of mutation carriers is fundamental for planning the most suitable path of prevention, diagnosis and therapy with a view to precision and predictive medicine.

At CEINGE the molecular investigation for the search for mutations in the BRCA1 and BRCA2 genes has been active since 2014 and uses methods of next generation sequencing and MLPA methods for the identification of point mutations and wide gene rearrangements respectively.