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BioMed Research International
Volume 2015 (2015), Article ID 341723, 11 pages
Review Article

Hereditary Ovarian Cancer: Not Only BRCA 1 and 2 Genes

1Department of Oncology, Haematology and Respiratory Diseases, University Hospital of Modena, 41124 Modena, Italy
2Department of Obstetrics Gynecology and Pediatrics, Obstetrics and Gynecology Unit, University Hospital of Modena, 41124 Modena, Italy
3Department of Medical Oncology, Kimmel Cancer Center, Thomas Jefferson University Hospital, Philadelphia, PA 19107, USA

Received 2 January 2015; Revised 27 April 2015; Accepted 29 April 2015

Academic Editor: Stefan Rimbach

Copyright © 2015 Angela Toss et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


More than one-fifth of ovarian tumors have hereditary susceptibility and, in about 65–85% of these cases, the genetic abnormality is a germline mutation in BRCA genes. Nevertheless, several other suppressor genes and oncogenes have been associated with hereditary ovarian cancers, including the mismatch repair (MMR) genes in Lynch syndrome, the tumor suppressor gene, TP53, in the Li-Fraumeni syndrome, and several other genes involved in the double-strand breaks repair system, such as CHEK2, RAD51, BRIP1, and PALB2. The study of genetic discriminators and deregulated pathways involved in hereditary ovarian syndromes is relevant for the future development of molecular diagnostic strategies and targeted therapeutic approaches. The recent development and implementation of next-generation sequencing technologies have provided the opportunity to simultaneously analyze multiple cancer susceptibility genes, reduce the delay and costs, and optimize the molecular diagnosis of hereditary tumors. Particularly, the identification of mutations in ovarian cancer susceptibility genes in healthy women may result in a more personalized cancer risk management with tailored clinical and radiological surveillance, chemopreventive approaches, and/or prophylactic surgeries. On the other hand, for ovarian cancer patients, the identification of mutations may provide potential targets for biologic agents and guide treatment decision-making.