Cancer and Metastasis Reviews

, Volume 29, Issue 2, pp 339-350

First online:

Hereditary ovarian cancers: from BRCA mutations to clinical management. A modern appraisal

  • Andrea TinelliAffiliated withDepartment of Gynaecology and Obstetrics, Vito Fazzi HospitalDepartment of Gynecology and Obstetric, Division of Experimental Endoscopic Surgery, Imaging, Minimally Invasive Therapy, Vito Fazzi Hospital Email author 
  • , Antonio MalvasiAffiliated withDepartment of Gynaecology and Obstetrics, Santa Maria Hospital
  • , Giuseppe LeoAffiliated withMolecular Biology and Experimental Oncology Lab, Vito Fazzi Hospital
  • , Daniele VergaraAffiliated withLaboratory of Biology, Department of Biological and Environmental Sciences and Technologies (DiSTeBA), University of Salento
  • , Maurizio PisanòAffiliated withMolecular Biology and Experimental Oncology Lab, Vito Fazzi Hospital
  • , Mariangela CiccareseAffiliated withDepartment of Clinical Oncology, Vito Fazzi Hospital
  • , Vincenzo Emanuele ChiuriAffiliated withDepartment of Clinical Oncology, Vito Fazzi Hospital
  • , Vito LorussoAffiliated withDepartment of Clinical Oncology, Vito Fazzi Hospital

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In the past few years, ovarian cancer research has focused increasingly on disease prevention; but an increasing number of women refer to gynecology and clinical genetics clinics with a family history of ovarian cancer and inherited familial mutations. The interest on the issue has increased also due to the identification of BReast CAncer1 (BRCA1) and BRCA2 genes mutations. The importance of recognizing the characteristics of hereditary ovarian cancer (HOC) and manage women at risk appropriately will provide more accurate care of the high-risk population. Women at risk can be identified by pedigree analysis and may receive counseling from interdisciplinary cancer genetics clinics, while those at high risk need to receive genetic testing. Risk calculation programs define risks and assist in decision-making in clinical options and genetic testing; they provide information on the risks of the disease, mutation status, and the use of genetic testing in the management of high-risk families. Furthermore, while a large number of surrogate preliminary markers have been identified, there are still limited studies on ovarian cancer genomics. Different options for risk management of HOC are available: surveillance, chemoprevention and prophylactic surgery. Surveillance in HOC high-risk patients is still not accurate. Chemoprevention is currently a controversial topic, because a number of major issues still need to be addressed in developing and testing agents for ovarian cancer chemoprevention. Prophylactic surgery has been shown to effectively decrease cancer risk, and it has the possibility to substantially reduce ovarian cancer mortality.


Hereditary ovarian cancer BRCA Prophylactic surgery Genetics Genetic testing HNPCC Laparoscopy Oophorectomy Counseling Risk assessment