Hruban Ralph H, Klein Alison P, Eshleman James R, Axilbund Jennifer E, Goggins Michael
Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins Hospital, Weinberg Building 2242, 401 North Broadway, Baltimore, MD 21231,USA.
Expert Rev Gastroenterol Hepatol. 2007 Oct;1(1):81-8. doi: 10.1586/17474124.1.1.81.
Pancreatic cancer is essentially a disease caused by inherited and acquired mutations in cancer-causing genes. A number of the genes responsible for the aggregation of pancreatic cancer in families have been discovered, including BRCA2, p16/CDKN2A, STK11 and PRSS1. Individuals can be tested for germline mutations in these genes; however, until recently, little could be done about the risk of pancreatic cancer if a patient was found to carry a mutation. Currently, new approaches are being developed to screen at-risk individuals for curable precancerous pancreatic lesions and laboratory studies have led to novel therapies that specifically target some of these genetic defects. This review focuses on the genetic basis for the familial aggregation of pancreatic cancer, with emphasis placed on the implications of the genetic alterations on clinical patient care.
胰腺癌本质上是一种由致癌基因的遗传和获得性突变引起的疾病。已经发现了一些导致胰腺癌在家族中聚集的基因，包括BRCA2、p16/CDKN2A、STK11和PRSS1。可以对个体进行这些基因的种系突变检测；然而，直到最近，如果发现患者携带突变，对于胰腺癌风险几乎无能为力。目前，正在开发新的方法来筛查有风险的个体，以发现可治愈的癌前胰腺病变，并且实验室研究已经产生了专门针对其中一些基因缺陷的新疗法。本综述重点关注胰腺癌家族聚集的遗传基础，重点在于基因改变对临床患者护理的影响。
