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首页> 外文期刊>Scientific reports. >Identifying sequence variants contributing to hereditary breast and ovarian cancer in?BRCA1 and BRCA2 negative breast and ovarian cancer patients
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Identifying sequence variants contributing to hereditary breast and ovarian cancer in?BRCA1 and BRCA2 negative breast and ovarian cancer patients

机译：鉴定序列变体患有遗传性乳腺癌和卵巢癌的序列变体？BRCA1和BRCA2阴性乳腺癌和卵巢癌患者

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Families with breast and ovarian cancer are often tested for disease associated sequence variants in BRCA1 and BRCA2. Pathogenic sequence variants (PVs) in these two genes are known to increase breast and ovarian cancer risks in females. However, in most families no PVs are detected in these two genes. Currently, several studies have identified other genes involved in hereditary breast and ovarian cancer (HBOC). To identify genetic risk factors for breast and ovarian cancer in a Norwegian HBOC cohort, 101 breast and/or ovarian cancer patients negative for PVs and variants of unknown clinical significance (VUS) in BRCA1/2 were screened for PVs in 94 genes using next-generation sequencing. Sixteen genes were closely scrutinized. Nine different deleterious germline PVs/likely pathogenic variants (LPVs) were identified in seven genes in 12 patients: three in ATM, and one in CHEK2, ERCC5, FANCM, RAD51C, TP53 and WRN. Additionally, 32 different VUSs were identified and these require further characterization. For carriers of PV/LPV in many of these genes, there are no national clinical management programs in Norway. The diversity of genetic risk factors possibly involved in cancer development show the necessity for more knowledge to improve the clinical follow-up of this genetically diverse patient group.
机译：患有乳腺癌和卵巢癌的家庭经常在BRCA1和BRCA2中进行疾病相关序列变体进行检测。已知这两种基因中的病原序列变体（PVS）增加了女性中的乳腺癌和卵巢癌风险。然而，在大多数家庭中，在这两个基因中没有检测到PV。目前，几项研究已经确定了遗传性乳腺癌和卵巢癌（HBOC）的其他基因。为了鉴定挪威HBOC群组中乳腺癌和卵巢癌的遗传危险因素，101例乳腺癌和/或卵巢癌患者对PVS的阴性和未知临床意义（VUS）的变体进行筛选，在94个基因中筛选使用下一个 - 发电测序。十六个基因密切仔细审查。在12名患者的七个基因中鉴定了九种不同有害的种系PVS /可能的致病变异（LPV）：三个在ATM中，一个在Chek2，Ercc5，Fancm，Rad51C，TP53和WRN中。此外，鉴定了32种不同的VASE，这些不同的VASE需要进一步表征。对于许多这些基因的PV / LPV的载体，挪威没有国家临床管理计划。可能参与癌症发展的遗传危险因素的多样性表明，更多知识，以改善这种遗传多样性患者组的临床随访。

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