Hereditary breast and ovarian cancer syndrome: Diagnosis and therapeutic implications].

Annales de pathologie 2020 Apr

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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.

Citation

Meriem Koual, Géraldine Perkins, Nicolas Delanoy, Céline Crespel, Jacques Medioni, Huyên-Thu Nguyen-Xuan, Nathalie Douay-Hauser, Hélène Blons, Marie-Aude Le Frère-Belda, Diane Molière, Guillaume Achen, Claude Nos, Vincent Balaya, Rosa Montero, Pierre Laurent-Puig, Anne-Sophie Bats. Hereditary breast and ovarian cancer syndrome: Diagnosis and therapeutic implications]. Annales de pathologie. 2020 Apr;40(2):70-77