Samuel F. Bronfman Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Henry D. Janowitz Division of Gastroenterology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Gut Liver. 2017 Nov 15;11(6):761-770. doi: 10.5009/gnl16414.
Pancreatic cancer (PC) is the third most common cause of cancer-related death in the United States and the 12th most common worldwide. Mortality is high, largely due to late stage of presentation and suboptimal treatment regimens. Approximately 10% of PC cases have a familial basis. The major genetic defect has yet to be identified but may be inherited by an autosomal dominant pattern with reduced penetrance. Several known hereditary syndromes or genes are associated with an increased risk of developing PC and account for approximately 2% of PCs. These syndromes include the hereditary breast-ovarian cancer syndrome, Peutz-Jeghers syndrome, familial atypical multiple mole melanoma, Lynch syndrome, familial polyposis, ataxia-telangiectasia, and hereditary pancreatitis. Appropriate screening using methods such as biomarkers or imaging, with endoscopic ultrasound and magnetic resonance imaging, may assist in the early detection of neoplastic lesions in the high-risk population. If these lesions are detected and treated before the development of invasive carcinoma, PC disease morbidity and mortality may be improved. This review will focus on familial PC and other hereditary syndromes implicated in the increased risk of PC; it will also highlight current screening methods and the future of new screening modalities.
胰腺癌（PC）是美国癌症相关死亡的第三大常见原因，也是全球第 12 大常见原因。死亡率很高，主要是由于晚期表现和治疗方案不理想。大约 10%的 PC 病例有家族基础。主要的遗传缺陷尚未确定，但可能以常染色体显性遗传模式遗传，外显率降低。一些已知的遗传性综合征或基因与 PC 发病风险增加有关，约占 PC 的 2%。这些综合征包括遗传性乳腺癌-卵巢癌综合征、Peutz-Jeghers 综合征、家族性非典型多发性痣黑素瘤、林奇综合征、家族性息肉病、共济失调-毛细血管扩张症和遗传性胰腺炎。使用生物标志物或影像学等方法进行适当的筛查，如内镜超声和磁共振成像，可能有助于高危人群中肿瘤病变的早期发现。如果在侵袭性癌发生之前发现并治疗这些病变，可能会改善 PC 的发病和死亡率。这篇综述将重点介绍家族性 PC 及其他与 PC 风险增加相关的遗传性综合征；还将突出当前的筛查方法和新筛查方式的未来。
