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Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
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[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.
La Revue Du Praticien
|July 28, 2022
Summary
Hereditary ovarian cancers, often linked to BRCA1/BRCA2 gene variants, increase breast and ovarian cancer risks. Risk-reducing surgeries and PARP inhibitors offer management options for carriers.
Area of Science:
- Oncology
- Genetics
- Cancer Research
Background:
- Approximately 15% of ovarian cancers are hereditary.
- Germline pathogenic variants in susceptibility genes, primarily BRCA1 and BRCA2, cause hereditary ovarian cancers.
Purpose of the Study:
- To outline the risks associated with hereditary ovarian cancer.
- To discuss risk-reducing strategies and treatment options for individuals with genetic susceptibility to ovarian and breast cancers.
Main Methods:
- Review of cumulative cancer risks for individuals with BRCA1/BRCA2 pathogenic variants.
- Discussion of risk-reducing interventions including salpingo-oophorectomy and mastectomy.
- Overview of current treatment modalities, including poly-(ADP-ribose)-polymerase (PARP) inhibitors.
Main Results:
- Cumulative risks by age 80 are 44% for ovarian cancer and 17% for breast cancer in BRCA1/BRCA2 carriers.
- Risk-reducing salpingo-oophorectomy is recommended for asymptomatic carriers before menopause.
- Intensive breast screening with MRI is advised, with risk-reducing mastectomy as an option.
Conclusions:
- Genetic susceptibility significantly impacts ovarian and breast cancer risk.
- Proactive management, including surgical intervention and novel therapies like PARP inhibitors, is crucial for BRCA1/BRCA2 carriers.
- Other susceptibility genes like RAD51C, RAD51D, PALB2, and MMR genes also contribute to ovarian cancer risk, albeit generally with lower cumulative risks.
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