Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients
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..
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2022 |
|---|---|
| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:19 |
|---|---|
| Enthalten in: |
International Journal of Environmental Research and Public Health - 19(2022), 4314, p 4314 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Radu Vidra [VerfasserIn] |
|---|
| Links: |
doi.org [kostenfrei] |
|---|
| Themen: |
BRCA mutations |
|---|
| doi: |
10.3390/ijerph19074314 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
DOAJ050978209 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | DOAJ050978209 | ||
| 003 | DE-627 | ||
| 005 | 20230308155641.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 230227s2022 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.3390/ijerph19074314 |2 doi | |
| 035 | |a (DE-627)DOAJ050978209 | ||
| 035 | |a (DE-599)DOAJ7d5f8bca1e6b48c6a9011967a1ec8c91 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 0 | |a Radu Vidra |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients |
| 264 | 1 | |c 2022 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 520 | |a 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. | ||
| 650 | 4 | |a breast cancer | |
| 650 | 4 | |a ovarian cancer | |
| 650 | 4 | |a BRCA mutations | |
| 650 | 4 | |a BRCA1 mutations | |
| 650 | 4 | |a BRCA2 mutations | |
| 653 | 0 | |a Medicine | |
| 653 | 0 | |a R | |
| 700 | 0 | |a Tudor Eliade Ciuleanu |e verfasserin |4 aut | |
| 700 | 0 | |a Adina Nemeș |e verfasserin |4 aut | |
| 700 | 0 | |a Oana Pascu |e verfasserin |4 aut | |
| 700 | 0 | |a Ana Maria Heroiu |e verfasserin |4 aut | |
| 700 | 0 | |a Nicoleta Antone |e verfasserin |4 aut | |
| 700 | 0 | |a Andreea Iulia Vidrean |e verfasserin |4 aut | |
| 700 | 0 | |a Cristina Marinela Oprean |e verfasserin |4 aut | |
| 700 | 0 | |a Laura Ancuta Pop |e verfasserin |4 aut | |
| 700 | 0 | |a Ioana Berindan-Neagoe |e verfasserin |4 aut | |
| 700 | 0 | |a Rares Eniu |e verfasserin |4 aut | |
| 700 | 0 | |a Alexandru Eniu |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i In |t International Journal of Environmental Research and Public Health |d MDPI AG, 2005 |g 19(2022), 4314, p 4314 |w (DE-627)DOAJ000006807 |x 16604601 |7 nnns |
| 773 | 1 | 8 | |g volume:19 |g year:2022 |g number:4314, p 4314 |
| 856 | 4 | 0 | |u https://doi.org/10.3390/ijerph19074314 |z kostenfrei |
| 856 | 4 | 0 | |u https://doaj.org/article/7d5f8bca1e6b48c6a9011967a1ec8c91 |z kostenfrei |
| 856 | 4 | 0 | |u https://www.mdpi.com/1660-4601/19/7/4314 |z kostenfrei |
| 856 | 4 | 2 | |u https://doaj.org/toc/1661-7827 |y Journal toc |z kostenfrei |
| 856 | 4 | 2 | |u https://doaj.org/toc/1660-4601 |y Journal toc |z kostenfrei |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_DOAJ | ||
| 951 | |a AR | ||
| 952 | |d 19 |j 2022 |e 4314, p 4314 | ||