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BRCAmut and "founder effect": a prospective study in a single academic institution
Vera Loizzi1, Ettore Cicinelli1, Francesco Santamaria1
1Obstetrics and Gynecology Unit, Department of Biomedical Science and Human Oncology, University of Bari, Bari, Italy.
Oncotarget
|June 2, 2018
Summary
Hereditary breast and ovarian cancer syndrome (HBOC) mutations are common in Apulian ovarian cancer patients. BRCA-mutated ovarian cancer presents with earlier onset and better survival outcomes compared to sporadic cases.
Area of Science:
- Oncology
- Genetics
- Epidemiology
Background:
- Approximately 25% of ovarian cancers are hereditary, with 80-90% linked to Hereditary Breast-Ovarian Cancer Syndrome (HBOC) due to BRCA 1/2 gene mutations.
- Understanding BRCA mutation incidence and characteristics in specific populations is crucial for targeted management.
Purpose of the Study:
- To determine the incidence of BRCA 1/2 mutations in Apulian ovarian cancer patients.
- To characterize the clinical and survival features of BRCA-mutated ovarian cancer in this population.
Main Methods:
- Prospective collection of 105 Apulian patients with high-grade serous ovarian cancer (July 2015 - October 2017).
- BRCA 1/2 mutation genetic testing offered post-counseling.
- Clinical data evaluation and survival analysis using Kaplan-Meier method and log-rank test.
Main Results:
- 39% of studied patients carried a BRCA 1/2 mutation.
- BRCA-mutated ovarian cancer patients exhibited a lower median age of onset, fewer advanced-stage diagnoses, and reduced mortality.
- Progression-Free Survival (PFS) and Overall Survival (OS) were significantly longer in BRCA-mutated patients.
Conclusions:
- The Apulian population shows a notable incidence of BRCA mutations among ovarian cancer patients.
- BRCA-mutated ovarian cancer is associated with earlier onset, earlier diagnosis, and a more favorable prognosis compared to sporadic disease.