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Published on: October 14, 2015
[Hereditary breast and ovarian cancer syndrome: Diagnosis and therapeutic implications]
Meriem Koual1, Géraldine Perkins2, Nicolas Delanoy3
1Faculté de médecine Paris-Descartes, université de Paris, Paris, France; Chirurgie cancérologique gynécologique et du sein, APHP centre, hôpital européen Georges-Pompidou, 20, rue Leblanc, 75908 Paris, France; Inserm UMR-S1124, université de Paris, centre universitaire des Saints-Pères, Paris, France.
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.
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