NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of <i>BRCA</i>-Negative Cases
In Cyprus, approximately 9% of triple-negative (estrogen receptor-negative, progesterone receptor-negative, and human epidermal growth factor receptor 2-negative) breast cancer (TNBC) patients are positive for germline pathogenic variants (PVs) in <i>BRCA1/2</i>. However, the contributio...
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| Format: | Article |
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MDPI AG
2020-10-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/12/11/3140 |
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| author | Maria Zanti Maria A. Loizidou Kyriaki Michailidou Panagiota Pirpa Christina Machattou Yiola Marcou Flora Kyriakou Eleni Kakouri George A. Tanteles Elena Spanou George M. Spyrou Kyriacos Kyriacou Andreas Hadjisavvas |
| author_facet | Maria Zanti Maria A. Loizidou Kyriaki Michailidou Panagiota Pirpa Christina Machattou Yiola Marcou Flora Kyriakou Eleni Kakouri George A. Tanteles Elena Spanou George M. Spyrou Kyriacos Kyriacou Andreas Hadjisavvas |
| author_sort | Maria Zanti |
| collection | DOAJ |
| description | In Cyprus, approximately 9% of triple-negative (estrogen receptor-negative, progesterone receptor-negative, and human epidermal growth factor receptor 2-negative) breast cancer (TNBC) patients are positive for germline pathogenic variants (PVs) in <i>BRCA1/2</i>. However, the contribution of other genes has not yet been determined. To this end, we aimed to investigate the prevalence of germline PVs in <i>BRCA1/2</i>-negative TNBC patients in Cyprus, unselected for family history of cancer or age of diagnosis. A comprehensive 94-cancer-gene panel was implemented for 163 germline DNA samples, extracted from the peripheral blood of TNBC patients. Identified variants of uncertain clinical significance were evaluated, using extensive in silico investigation. Eight PVs (4.9%) were identified in two high-penetrance TNBC susceptibility genes. Of these, seven occurred in <i>PALB2</i> (87.5%) and one occurred in <i>TP53</i> (12.5%). Interestingly, 50% of the patients carrying PVs were diagnosed over the age of 60 years. The frequency of non-<i>BRCA</i> PVs (4.9%) and especially <i>PALB2</i> PVs (4.3%) in TNBC patients in Cyprus appears to be higher compared to other populations. Based on these results, we believe that <i>PALB2</i> and <i>TP53</i> along with <i>BRCA1/2</i> genetic testing could be beneficial for a large proportion of TNBC patients in Cyprus, irrespective of their age of diagnosis. |
| first_indexed | 2024-03-10T15:19:20Z |
| format | Article |
| id | doaj.art-fa7067faa58a475e98fbe3c8dd9dd940 |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-10T15:19:20Z |
| publishDate | 2020-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-fa7067faa58a475e98fbe3c8dd9dd9402023-11-20T18:39:34ZengMDPI AGCancers2072-66942020-10-011211314010.3390/cancers12113140NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of <i>BRCA</i>-Negative CasesMaria Zanti0Maria A. Loizidou1Kyriaki Michailidou2Panagiota Pirpa3Christina Machattou4Yiola Marcou5Flora Kyriakou6Eleni Kakouri7George A. Tanteles8Elena Spanou9George M. Spyrou10Kyriacos Kyriacou11Andreas Hadjisavvas12Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Agios Dhometios, Nicosia, CyprusDepartment of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Agios Dhometios, Nicosia, CyprusCyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Agios Dhometios, Nicosia, CyprusDepartment of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Agios Dhometios, Nicosia, CyprusDepartment of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Agios Dhometios, Nicosia, CyprusDepartment of Medical Oncology, Bank of Cyprus Oncology Center, 32 Acropoleos Avenue, 2012 Strovolos, Nicosia, CyprusDepartment of Medical Oncology, Bank of Cyprus Oncology Center, 32 Acropoleos Avenue, 2012 Strovolos, Nicosia, CyprusDepartment of Medical Oncology, Bank of Cyprus Oncology Center, 32 Acropoleos Avenue, 2012 Strovolos, Nicosia, CyprusCyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Agios Dhometios, Nicosia, CyprusClinical Genetics Department, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Agios Dhometios, Nicosia, CyprusCyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Agios Dhometios, Nicosia, CyprusDepartment of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Agios Dhometios, Nicosia, CyprusDepartment of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Agios Dhometios, Nicosia, CyprusIn Cyprus, approximately 9% of triple-negative (estrogen receptor-negative, progesterone receptor-negative, and human epidermal growth factor receptor 2-negative) breast cancer (TNBC) patients are positive for germline pathogenic variants (PVs) in <i>BRCA1/2</i>. However, the contribution of other genes has not yet been determined. To this end, we aimed to investigate the prevalence of germline PVs in <i>BRCA1/2</i>-negative TNBC patients in Cyprus, unselected for family history of cancer or age of diagnosis. A comprehensive 94-cancer-gene panel was implemented for 163 germline DNA samples, extracted from the peripheral blood of TNBC patients. Identified variants of uncertain clinical significance were evaluated, using extensive in silico investigation. Eight PVs (4.9%) were identified in two high-penetrance TNBC susceptibility genes. Of these, seven occurred in <i>PALB2</i> (87.5%) and one occurred in <i>TP53</i> (12.5%). Interestingly, 50% of the patients carrying PVs were diagnosed over the age of 60 years. The frequency of non-<i>BRCA</i> PVs (4.9%) and especially <i>PALB2</i> PVs (4.3%) in TNBC patients in Cyprus appears to be higher compared to other populations. Based on these results, we believe that <i>PALB2</i> and <i>TP53</i> along with <i>BRCA1/2</i> genetic testing could be beneficial for a large proportion of TNBC patients in Cyprus, irrespective of their age of diagnosis.https://www.mdpi.com/2072-6694/12/11/3140triple-negative breast cancergermline genetic testingNGS of gene panelsgenetic predisposition to breast cancer |
| spellingShingle | Maria Zanti Maria A. Loizidou Kyriaki Michailidou Panagiota Pirpa Christina Machattou Yiola Marcou Flora Kyriakou Eleni Kakouri George A. Tanteles Elena Spanou George M. Spyrou Kyriacos Kyriacou Andreas Hadjisavvas NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of <i>BRCA</i>-Negative Cases Cancers triple-negative breast cancer germline genetic testing NGS of gene panels genetic predisposition to breast cancer |
| title | NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of <i>BRCA</i>-Negative Cases |
| title_full | NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of <i>BRCA</i>-Negative Cases |
| title_fullStr | NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of <i>BRCA</i>-Negative Cases |
| title_full_unstemmed | NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of <i>BRCA</i>-Negative Cases |
| title_short | NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of <i>BRCA</i>-Negative Cases |
| title_sort | ngs panel testing of triple negative breast cancer patients in cyprus a study of i brca i negative cases |
| topic | triple-negative breast cancer germline genetic testing NGS of gene panels genetic predisposition to breast cancer |
| url | https://www.mdpi.com/2072-6694/12/11/3140 |
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