Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland
Abstract Background Mutations in BRCA1 and BRCA2 genes are well-established risk factors of breast and ovarian cancer. In our former study, we observed that approximately 6% of unselected ovarian cancer patients in the region of Podkarpacie (South-East Poland) carry BRCA1 causative founder variants,...
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| Format: | Article |
| Language: | English |
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BMC
2022-04-01
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| Series: | Hereditary Cancer in Clinical Practice |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13053-022-00219-z |
| _version_ | 1819060967008370688 |
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| author | Andrzej Jasiewicz Helena Rudnicka Wojciech Kluźniak Wojciech Gronwald Tomasz Kluz Cezary Cybulski Anna Jakubowska Jan Lubiński Jacek Gronwald |
| author_facet | Andrzej Jasiewicz Helena Rudnicka Wojciech Kluźniak Wojciech Gronwald Tomasz Kluz Cezary Cybulski Anna Jakubowska Jan Lubiński Jacek Gronwald |
| author_sort | Andrzej Jasiewicz |
| collection | DOAJ |
| description | Abstract Background Mutations in BRCA1 and BRCA2 genes are well-established risk factors of breast and ovarian cancer. In our former study, we observed that approximately 6% of unselected ovarian cancer patients in the region of Podkarpacie (South-East Poland) carry BRCA1 causative founder variants, which is significantly lower than in other regions of Poland. Therefore, it is deeply justified to do research based on the sequencing of whole BRCA1 and BRCA2 genes. Methods We examined 158 consecutive unselected cases of ovarian cancer patients from the region of Podkarpacie. We performed BRCA1 and BRCA2 genes Next-Generation Sequencing study in all cases. Results Altogether, in 18 of 158 (11.4%) ovarian cancer patients with BRCA1 or BRCA2 pathogenic mutations were found. BRCA1 pathogenic variants were detected in 11 of the 158 (7.0%) ovarian cancer cases. 10 of 11 (91%) detected BRCA1 mutations were founder mutations, detectable with the standard test used in Poland. BRCA2 pathogenic variants were found in 7 of the 158 (4.4%) cases. No BRCA2 pathogenic variants were founder mutations. The median age of patients at the diagnosis of the 18 hereditary ovarian cancers was 57.5 years. Conclusions The frequency of BRCA1 or BRCA2 gene mutation carriers among patients with ovarian cancer from the Podkarpacie region is comparable to other regions of Poland. However, a significantly higher percentage of BRCA2 gene mutations was observed, that were not detectable with a standard test for detection of founder mutations. Diagnostics based only on testing the BRCA1/2 Polish founder mutations is characterized by relatively low sensitivity in the case of ovarian cancer patients from South-East Poland and should be supplemented by NGS study, in particular of the BRCA2 gene. |
| first_indexed | 2024-12-21T14:35:24Z |
| format | Article |
| id | doaj.art-8bb72149f5204bcc8c65fb5e8e223ccd |
| institution | Directory Open Access Journal |
| issn | 1897-4287 |
| language | English |
| last_indexed | 2024-12-21T14:35:24Z |
| publishDate | 2022-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj.art-8bb72149f5204bcc8c65fb5e8e223ccd2022-12-21T19:00:21ZengBMCHereditary Cancer in Clinical Practice1897-42872022-04-012011510.1186/s13053-022-00219-zFrequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East PolandAndrzej Jasiewicz0Helena Rudnicka1Wojciech Kluźniak2Wojciech Gronwald3Tomasz Kluz4Cezary Cybulski5Anna Jakubowska6Jan Lubiński7Jacek Gronwald8Laboratory of Clinical Genetics, Molecular Biology of Cancer and Translational Research, Faculty of Medicine, Rzeszow UniversityDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical UniversityDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical UniversityDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical UniversityDepartment of Obstetrics and Gynecology, Faculty of Medicine, Fryderyk Chopin University Hospital, Rzeszow UniversityDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical UniversityDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical UniversityDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical UniversityDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical UniversityAbstract Background Mutations in BRCA1 and BRCA2 genes are well-established risk factors of breast and ovarian cancer. In our former study, we observed that approximately 6% of unselected ovarian cancer patients in the region of Podkarpacie (South-East Poland) carry BRCA1 causative founder variants, which is significantly lower than in other regions of Poland. Therefore, it is deeply justified to do research based on the sequencing of whole BRCA1 and BRCA2 genes. Methods We examined 158 consecutive unselected cases of ovarian cancer patients from the region of Podkarpacie. We performed BRCA1 and BRCA2 genes Next-Generation Sequencing study in all cases. Results Altogether, in 18 of 158 (11.4%) ovarian cancer patients with BRCA1 or BRCA2 pathogenic mutations were found. BRCA1 pathogenic variants were detected in 11 of the 158 (7.0%) ovarian cancer cases. 10 of 11 (91%) detected BRCA1 mutations were founder mutations, detectable with the standard test used in Poland. BRCA2 pathogenic variants were found in 7 of the 158 (4.4%) cases. No BRCA2 pathogenic variants were founder mutations. The median age of patients at the diagnosis of the 18 hereditary ovarian cancers was 57.5 years. Conclusions The frequency of BRCA1 or BRCA2 gene mutation carriers among patients with ovarian cancer from the Podkarpacie region is comparable to other regions of Poland. However, a significantly higher percentage of BRCA2 gene mutations was observed, that were not detectable with a standard test for detection of founder mutations. Diagnostics based only on testing the BRCA1/2 Polish founder mutations is characterized by relatively low sensitivity in the case of ovarian cancer patients from South-East Poland and should be supplemented by NGS study, in particular of the BRCA2 gene.https://doi.org/10.1186/s13053-022-00219-zBRCA1 and BRCA2 mutationOvarian cancerPoland |
| spellingShingle | Andrzej Jasiewicz Helena Rudnicka Wojciech Kluźniak Wojciech Gronwald Tomasz Kluz Cezary Cybulski Anna Jakubowska Jan Lubiński Jacek Gronwald Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland Hereditary Cancer in Clinical Practice BRCA1 and BRCA2 mutation Ovarian cancer Poland |
| title | Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland |
| title_full | Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland |
| title_fullStr | Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland |
| title_full_unstemmed | Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland |
| title_short | Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland |
| title_sort | frequency of brca1 and brca2 mutations in ovarian cancer patients in south east poland |
| topic | BRCA1 and BRCA2 mutation Ovarian cancer Poland |
| url | https://doi.org/10.1186/s13053-022-00219-z |
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