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Updated: Sep 3, 2025

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
[Oncogénétique dans les cancers de l'ovaire]
Camille Desseignés1, Patrick Benusiglio1
1Unité fonctionnelle d'oncogénétique clinique, département de génétique, hôpital La Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris, France.
Abstract:
GENETIC SUSCEPTIBILITY TO OVARIAN CANCERS About 15% of ovarian cancers are hereditary. Hereditary ovarian cancers are caused by a germline pathogenic variant in a susceptibility gene, mainly BRCA1 and BRCA2. Cumulative risks before age of 80 years are 44% and 17%, respectively, and are high enough to warrant risk-reducing salpingo-annexectomy in asymptomatic carriers before the menopause. Risk of breast cancer is also increased, with an associated recommendation of intensive breast screening with MRI at its core, and a possibility of risk-reducing mastectomy for well-informed patients who might request it. Ovarian and breast cancers associated with a BRCA1/BRCA2 pathogenic variant, can be, under certain conditions, treated with a new class of drugs called poly-(ADP-ribose)-polymerase (PARP) inhibors in addition to surgery and/or chemotherapy. The other ovarian cancer susceptibility genes are RAD51C, RAD51D, PALB2 and the mismatch repair genes (Mismatch repair [MMR] of Lynch syndrome). Cumulative risks are however in general smaller than for BRCA1/BRCA2.
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