Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients

Radu Vidra, Tudor Eliade Ciuleanu, Adina Nemeș, Oana Pascu, Ana Maria Heroiu, Nicoleta Antone, Andreea Iulia Vidrean, Cristina Marinela Oprean, Laura Ancuta Pop, Ioana Berindan-Neagoe, Rares Eniu and Alexandru Eniu
Additional contact information
Radu Vidra: Oncology Department, “Iuliu Hatieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania
Tudor Eliade Ciuleanu: Oncology Department, “Iuliu Hatieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania
Adina Nemeș: Oncology Department, “Iuliu Hatieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania
Oana Pascu: The Oncology Institute “Ion Chiricuta”, Republicii Street, No 34-36, 400015 Cluj-Napoca, Romania
Ana Maria Heroiu: The Oncology Institute “Ion Chiricuta”, Republicii Street, No 34-36, 400015 Cluj-Napoca, Romania
Nicoleta Antone: The Oncology Institute “Ion Chiricuta”, Republicii Street, No 34-36, 400015 Cluj-Napoca, Romania
Andreea Iulia Vidrean: Medisprof Cancer Center, 400641 Cluj-Napoca, Romania
Cristina Marinela Oprean: Department of Oncology, ONCOHELP Hospital, 200239 Timisoara, Romania
Laura Ancuta Pop: Research Center for Functional Genomics, Biomedicine and Translational Medicine, “Iuliu Hatieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania
Ioana Berindan-Neagoe: Research Center for Functional Genomics, Biomedicine and Translational Medicine, “Iuliu Hatieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania
Rares Eniu: Faculte de Medecine, Universite de Geneve, 1206 Geneva, Switzerland
Alexandru Eniu: Hopital Riviera-Chablais, 1847 Rennaz, Switzerland

IJERPH, 2022, vol. 19, issue 7, 1-13

Abstract: Background: About 10,000 women are diagnosed with breast cancer and about 2000 women are diagnosed with ovarian cancer each year in Romania. There is an insufficient number of genetic studies in the Romanian population to identify patients at high risk of inherited breast and ovarian cancer. Methods: We evaluated 250 women of Romanian ethnicity with BC and 240 women of Romanian ethnicity with ovarian cancer for the presence of damaging germline mutations in breast cancer genes 1 and 2 (BRCA1 and BRCA2, respectively) using Next-Generation Sequencing (NGS) technology. Results: Of the 250 breast cancer patients, 47 carried a disease-predisposing BRCA mutation (30 patients (63.83%) with a BRCA1 mutation and 17 patients (36.17%) with a BRCA2 mutation). Of the 240 ovarian cancer patients, 60 carried a BRCA mutation (43 patients (72%) with a BRCA1 mutation and 17 patients (28%) with a BRCA2 mutation). In the BRCA1 gene, we identified 18 variants (4 in both patient groups (ovarian and breast cancer patients), 1 mutation variant in the BC patient group, and 13 mutation variants in the ovarian cancer patient group). In the BRCA2 gene, we identified 17 variants (1 variant in both ovarian and breast cancer patients, 6 distinct variants in BC patients, and 10 distinct variants in ovarian cancer patients). The prevailing mutation variants identified were c.3607C>T (BRCA1) (18 cases) followed by c.5266dupC (BRCA1) (17 cases) and c.9371A>T (BRCA2) (12 cases). The most prevalent mutation, BRCA1 c.3607C>T, which is less common in the Romanian population, was mainly associated with triple-negative BC and ovarian serous adenocarcinoma. Conclusion: The results of our analysis may help to establish specific variants of BRCA mutations in the Romanian population and identify individuals at high risk of hereditary breast and ovarian cancer syndrome by genetic testing.

Keywords: breast cancer; ovarian cancer; BRCA mutations; BRCA1 mutations; BRCA2 mutations (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2022
References: View references in EconPapers View complete reference list from CitEc
Citations:

Downloads: (external link)
https://www.mdpi.com/1660-4601/19/7/4314/pdf (application/pdf)
https://www.mdpi.com/1660-4601/19/7/4314/ (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:gam:jijerp:v:19:y:2022:i:7:p:4314-:d:786679

Access Statistics for this article

IJERPH is currently edited by Ms. Jenna Liu

More articles in IJERPH from MDPI
Bibliographic data for series maintained by MDPI Indexing Manager ().