Department of Pathology, Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287 USA.
The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Genes (Basel). 2020 Jan 17;11(1):108. doi: 10.3390/genes11010108.
Next-generation sequencing has led to the recent discovery of several novel pancreatic cancer susceptibility genes. These genes include ataxia telangiectasia mutated (), a serine/threonine kinase that is an integral component of DNA repair. Pathogenic germline variants are frequently identified in patients with pancreatic ductal adenocarcinoma (PDAC) with and without a family history of the disease. Loss of is also a frequent somatic event in the development of PDAC. These discoveries have advanced our understanding of the genetic basis of pancreatic cancer risk and will impact patient care through appropriate patient-risk stratification; personalized screening and early detection efforts; and, for some, targeted therapy.
下一代测序技术最近发现了几个新的胰腺癌易感基因。这些基因包括共济失调毛细血管扩张突变基因(),一种丝氨酸/苏氨酸激酶,是 DNA 修复的一个组成部分。在有或没有家族病史的胰腺导管腺癌(PDAC)患者中,常发现致病性种系变异。在 PDAC 的发展过程中,也经常出现的丢失。这些发现提高了我们对胰腺癌风险遗传基础的认识,并将通过适当的患者风险分层、个性化筛查和早期检测努力以及对某些患者的靶向治疗来影响患者的护理。