Article
BRCA1/2 variants of unknown significance in hereditary breast and ovarian cancer (HBOC) syndrome: Looking for the hidden meaning.
Critical reviews in oncology/hematology - 1 Apr 2022
Fanale Daniele, Pivetti Alessia, Cancelliere Daniela, Spera Antonio, Bono Marco, Fiorino Alessia, Pedone Erika, Barraco Nadia, Brando Chiara, Perez Alessandro, Guarneri Maria Francesca, Russo Tancredi Didier Bazan, Vieni Salvatore, Guarneri Girolamo, Russo Antonio, Bazan Viviana
Abstract excerpt
Hereditary breast and ovarian cancer syndrome is caused by germline mutations in BRCA1/2 genes. These genes are very large and their mutations are heterogeneous and scattered throughout the coding sequence. In addition to the above-mentioned mutations, variants of uncertain/unknown significance (VUSs) have been identified in BRCA genes, which make more difficult the clinical management of the patient and risk...
Topics
- BRCA1 Protein
- BRCA2 Protein
- Breast Neoplasms
- Female
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Hereditary Breast and Ovarian Cancer Syndrome
- Humans
- Mutation