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

// Vera Loizzi 1 , Ettore Cicinelli 1 , Francesco Santamaria 1 , Ferdinando Murgia 1 , Valentina Minicucci 1 , Leonardo Resta 4 , Nicoletta Resta 5 , Maria Iole Natalicchio 6 , Girolamo Ranieri 3 and Gennaro Cormio 1, 2 1 Obstetrics and Gynecology Unit, Department of Biomedical Science and Human Oncology, University of Bari, Bari, Italy 2 Gynecologic Oncology Unit, IRCCS Istituto Oncologico “Giovanni Paolo II”, Bari, Italy 3 Interventional and Medical Oncology Unit, National Cancer Research Center, IRCCS Istituto, Oncologico “Giovanni Paolo II”, Bari, Italy 4 Department of Pathology, University of Bari, Bari, Italy 5 Department of Biomedical Science and Human Oncology, Genetic Unit, University of Bari, Bari, Italy 6 Institute of Molecular Biology Laboratory, Riuniti Hospital, Foggia, Italy Correspondence to: Vera Loizzi, email: vloizzi@tiscali.it Keywords: ovarian cancer; BRCA 1-2 Received: January 24, 2018      Accepted: February 27, 2018      Published: April 27, 2018 ABSTRACT 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; BRCA-mutated 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.