BRCAmut and "founder effect": A prospective study in a single academic institution

Vera Loizzi, Ettore Cicinelli, Francesco Santamaria, Ferdinando Murgia, Valentina Minicucci, Leonardo Resta, Nicoletta Resta, Maria Iole Natalicchio, Girolamo Ranieri, Gennaro Cormio

Research output: Contribution to journalArticlepeer-review


Introduction: About 25% of ovarian cancers can be classified as hereditary. Of these, 80-90% are correleted with the Hereditary Breast-Ovarian Cancer Syndrome (HBOC), which is linked to BRCA 1/2 genes mutations. Our study was set up to study the BRCA-mutation incidence in Apulian population affected with ovarian cancer and to understand the characteristics of the ovarian disease BRCAmut-related. Results: One hundred and five Apulian patients affected by ovarian cancer with serous high grade histotype, were collected. Of these, 39% were carriers of BRCA 1/2 mutation. BRCAmut patients present a lower median age of onset, a lower percentage of neoplasms in advanced stages and a lower mortality than wild type patients; BRCAmutated patients have longer mean values of Progression Free Survival (PFS) and Overall Survival (OS). Conclusions: Apulia is a geographical area with a significant BRCA-mutation incidence variation in the population affected by ovarian cancer. BRCAmut-related ovarian disease is characterized by an earlier median age of onset, an earlier diagnosis and a better outcome than the sporadic disease. Materials and Methods: From July 2015 to October 2017, all ovarian cancer patients with serous high grade histotype referred to our Institution were prospectly collected. A BRCA-mutation genetic testing after counselling was offered to all of these patients. Clinical characteristics of all ovarian cancer patients were evaluated. Survival curves were estimated by Kaplan-Meier method and compared with log-rank test.

Original languageEnglish
Pages (from-to)22353-22358
Number of pages6
Issue number32
Publication statusPublished - Apr 27 2018


  • BRCA 1-2
  • Ovarian cancer

ASJC Scopus subject areas

  • Oncology


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