1. [Hereditary breast and ovarian cancer syndrome: Diagnosis and therapeutic implications].
- Author
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Koual M, Perkins G, Delanoy N, Crespel C, Medioni J, Nguyen-Xuan HT, Douay-Hauser N, Blons H, Le Frère-Belda MA, Molière D, Achen G, Nos C, Balaya V, Montero R, Laurent-Puig P, and Bats AS
- Subjects
- BRCA1 Protein analysis, BRCA1 Protein genetics, BRCA2 Protein analysis, BRCA2 Protein genetics, Female, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Genetic Testing, Humans, Mutation, Ovarian Neoplasms drug therapy, Phthalazines therapeutic use, Piperazines therapeutic use, Poly(ADP-ribose) Polymerase Inhibitors therapeutic use, Hereditary Breast and Ovarian Cancer Syndrome diagnosis, Hereditary Breast and Ovarian Cancer Syndrome drug therapy, Hereditary Breast and Ovarian Cancer Syndrome genetics
- Abstract
Patients who carry the BReast Cancer 1 or 2 (BRCA) gene mutations have an underlying hereditary predisposition for breast and ovarian cancers. These deleterious genetic mutations are the most common ones implicated in hereditary breast and ovarian cancers. Oncogenetic counselling plays a key role in identifying patient for BRCA testing and for mutation identification. BRCA1/2 carriers have to be followed up regularly and may justify breast and/or adnexal prophylactic surgery, according to the French National Cancer Institute guidelines (INCa). Poly- (DNA-riboses) polymerases inhibitors, notably olaparib, have a major role in the management of epithelial ovarian cancer in patients with BRCA mutation and many studies are ongoing to expand their indications in a near future., (Copyright © 2020 Elsevier Masson SAS. All rights reserved.)
- Published
- 2020
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