Arvai Kristóf, Horváth Péter, Balla Bernadett, Tőkés Anna M, Tobiás Bálint, Takács István, Nagy Zsolt, Lakatos Péter, Kósa János P
1st Department of Internal Medicine, Semmelweis University, Budapest, Hungary.
Fam Cancer. 2014 Dec;13(4):583-9. doi: 10.1007/s10689-014-9730-7.
BRCA1 and BRCA2 are two well-known genes in the background of hereditary breast and ovarian cancer. There is also evidence that several other genes play an important role in the pathogenesis of these two malignancies. Latest population-scaled studies showed that certain mutations in different genes could cause similar risk elevation like BRCA2 mutations. In this study we present a new method to analyse the risk assessment of women to breast and ovarian cancer. Using Haloplex, a novel sequence capture method combined with next-generation sequencing we were able to perform rapid and cost-effective screening of 16 genes that could be associated with an increased risk of breast and ovarian cancer. The rapid and cost effective analysis of this 16-gene cohort can reveal the genetic background of approximately 30 % of hereditary and familiar cases of breast and ovarian cancers. Thus, it opens up a new and high-throughput approach with fast turnaround time to the genetic diagnostics of these disorders and may be helpful to investigate other familial genetic disorders as well.
BRCA1和BRCA2是遗传性乳腺癌和卵巢癌背景下两个著名的基因。也有证据表明，其他几个基因在这两种恶性肿瘤的发病机制中起着重要作用。最新的大规模人群研究表明，不同基因中的某些突变可能导致与BRCA2突变类似的风险升高。在本研究中，我们提出了一种新的方法来分析女性患乳腺癌和卵巢癌的风险评估。使用Haloplex（一种结合了新一代测序的新型序列捕获方法），我们能够对16个可能与乳腺癌和卵巢癌风险增加相关的基因进行快速且经济高效的筛查。对这个16基因队列进行快速且经济高效的分析，可以揭示约30%的遗传性和家族性乳腺癌和卵巢癌病例的遗传背景。因此，它为这些疾病的基因诊断开辟了一种新的高通量方法，周转时间快，并且可能也有助于研究其他家族性遗传疾病。
