Research Papers:

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 and Gennaro Cormio

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Oncotarget. 2018; 9:22353-22358. https://doi.org/10.18632/oncotarget.24959

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Vera Loizzi1, Ettore Cicinelli1, Francesco Santamaria1, Ferdinando Murgia1, Valentina Minicucci1, Leonardo Resta4, Nicoletta Resta5, Maria Iole Natalicchio6, Girolamo Ranieri3 and Gennaro Cormio1,2

1Obstetrics and Gynecology Unit, Department of Biomedical Science and Human Oncology, University of Bari, Bari, Italy

2Gynecologic Oncology Unit, IRCCS Istituto Oncologico “Giovanni Paolo II”, Bari, Italy

3Interventional and Medical Oncology Unit, National Cancer Research Center, IRCCS Istituto, Oncologico “Giovanni Paolo II”, Bari, Italy

4Department of Pathology, University of Bari, Bari, Italy

5Department of Biomedical Science and Human Oncology, Genetic Unit, University of Bari, Bari, Italy

6Institute of Molecular Biology Laboratory, Riuniti Hospital, Foggia, Italy

Correspondence to:

Vera Loizzi, email: [email protected]

Keywords: ovarian cancer; BRCA 1-2

Received: January 24, 2018     Accepted: February 27, 2018     Published: April 27, 2018


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.

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