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Ovarian cancer predisposition beyond BRCA1 and BRCA2 genes
  1. Antonella Pietragalla1,
  2. Martina Arcieri2,
  3. Claudia Marchetti1,
  4. Giovanni Scambia1,3 and
  5. Anna Fagotti1,3
  1. 1Department of Woman, Child, and Public Health, Fondazione Policlinico Universitario A Gemelli IRCCS, Rome, Italy
  2. 2Department of Obstetrics and Gynecology, University of Eastern Piedmont, Novara, Italy
  3. 3Catholic University of Sacred Heart, Rome, Italy
  1. Correspondence to Professor Giovanni Scambia, Department of Women, Child, and Public Health, Fondazione Policlinico Universitario A Gemelli IRCCS, 00168 Roma, Italy; giovanni.scambia{at}


Several genes associated with hereditary ovarian cancer have been discovered as a result of the work done with next generation sequencing. It is estimated that approximately 23% of ovarian carcinomas have a hereditary predisposition. The most common hereditary condition is represented by germline mutations in BRCA1 or BRCA2 genes that account for 20–25% of high grade serous ovarian cancer. A number of other hereditary ovarian cancers are associated with different genes, with a crucial role in the DNA damage response pathway, such as the mismatch repair genes in Lynch syndrome, TP53 in Li-Fraumeni syndrome, STK11 in Peutz-Jeghers syndrome, CHEK2, RAD51, BRIP1, and PALB2. The goal of this manuscript is to summarize the published data regarding the molecular pathways involved in the pathogenesis of non-BRCA related hereditary ovarian cancer and to provide a tool that might be useful in discussing risk assessment, genetic testing, prevention strategies, as well as clinical and therapeutic implications for patients with ovarian cancer.

  • ovarian cancer
  • homologous recombination
  • BRCA1 Protein
  • BRCA2 Protein

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  • AP and MA contributed equally.

  • Contributors AP and MA contributed to the manuscript equally. AP, MA, CM, and AF conceived the presented idea. AP and MA wrote the manuscript with input from all authors. GS, CM, and AF supervised the findings of this work. All authors discussed the results and contributed to the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial, or not-for-profit sectors.

  • Competing interests AP worked in the Astrazeneca Medical Department until December 2018.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.