Ovarian cancer predisposition beyond BRCA1 and BRCA2 genes

Giovanni Scambia, Anna Fagotti, Martina Arcieri

Research output: Contribution to journalArticle

1 Citation (Scopus)


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.
Original languageEnglish
Pages (from-to)1803-1810
Number of pages8
JournalInternational Journal of Gynecological Cancer
Publication statusPublished - 2020


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


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