Zanti Maria, Loizidou Maria A, Michailidou Kyriaki, Pirpa Panagiota, Machattou Christina, Marcou Yiola, Kyriakou Flora, Kakouri Eleni, Tanteles George A, Spanou Elena, Spyrou George M, Kyriacou Kyriacos, Hadjisavvas Andreas
Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Agios Dhometios, Nicosia, Cyprus.
Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Agios Dhometios, Nicosia, Cyprus.
Cancers (Basel). 2020 Oct 27;12(11):3140. doi: 10.3390/cancers12113140.
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 . However, the contribution of other genes has not yet been determined. To this end, we aimed to investigate the prevalence of germline PVs in -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 (87.5%) and one occurred in (12.5%). Interestingly, 50% of the patients carrying PVs were diagnosed over the age of 60 years. The frequency of non- PVs (4.9%) and especially PVs (4.3%) in TNBC patients in Cyprus appears to be higher compared to other populations. Based on these results, we believe that and along with genetic testing could be beneficial for a large proportion of TNBC patients in Cyprus, irrespective of their age of diagnosis.
在塞浦路斯，约9%的三阴性（雌激素受体阴性、孕激素受体阴性和人表皮生长因子受体2阴性）乳腺癌（TNBC）患者种系致病变异（PVs）呈阳性。然而，其他基因的作用尚未确定。为此，我们旨在调查塞浦路斯未因癌症家族史或诊断年龄而被选择的TNBC阴性患者中种系PVs的患病率。对从TNBC患者外周血中提取的163份种系DNA样本进行了全面的94个癌症基因检测。使用广泛的电子研究评估了已鉴定的临床意义不确定的变异。在两个高外显率的TNBC易感基因中鉴定出8个PVs（4.9%）。其中，7个发生在（87.5%），1个发生在（12.5%）。有趣的是，携带PVs的患者中有50%在60岁以上被诊断。与其他人群相比，塞浦路斯TNBC患者中非PVs（4.9%）尤其是PVs（4.3%）的频率似乎更高。基于这些结果，我们认为，无论诊断年龄如何，对塞浦路斯很大一部分TNBC患者进行、以及基因检测可能是有益的。
