Oncology (Williston Park). 2020 Jun 10;34(6):196-201.
Pancreatic ductal adenocarcinoma (PDAC) is a disease marked by high rates of mortality; it is mostly incurable at the time of diagnosis. Only about 7% of patients survive 5 years after diagnosis. Diagnosis at a late stage and rapid progression with minimal response to available treatments are the main reasons for this poor outcome. It is crucial to identify individuals at high risk of developing PDAC so preventive and early detection measures can be employed. Approximately 10% to 15% of PDAC cases have a hereditary or familial basis. In the majority of PDAC cases, no main causative gene has been identified, but several known germline pathogenic mutations have been shown to be related to an increased risk of this cancer. The presence of 2 or more patients with pancreatic cancer within the circle of first-degree relatives, without the presence of a causative germline mutation, is defined as familial pancreatic cancer; this accounts for 4% to 10% of PDAC. Based on the growing evidence supporting the benefit of germline genetic testing in patients with PDAC, both the American Society of Clinical Oncology and the National Comprehensive Cancer Network recently updated their guidelines to include recommendations around genetic testing for patients with pancreatic cancer. However, there is no general consensus on the group of patients and individuals who should be studied and screened. We present a demonstrative case and review the available data on hereditary and familial PDAC.
胰腺导管腺癌（PDAC）是一种死亡率很高的疾病；在诊断时通常无法治愈。只有约 7%的患者在诊断后 5 年内存活。诊断晚期和快速进展，对现有治疗方法反应极小，是这种不良预后的主要原因。识别出患 PDAC 风险较高的个体至关重要，以便采取预防和早期检测措施。大约 10%至 15%的 PDAC 病例具有遗传性或家族性基础。在大多数 PDAC 病例中，尚未确定主要的致病基因，但已发现几种已知的种系致病性突变与这种癌症的风险增加有关。如果在一级亲属的范围内有 2 个或更多的胰腺癌患者，而不存在致病的种系突变，则定义为家族性胰腺癌；这占 PDAC 的 4%至 10%。基于支持对 PDAC 患者进行种系基因检测有益的证据不断增加，美国临床肿瘤学会和国家综合癌症网络最近更新了他们的指南，包括对胰腺癌患者进行基因检测的建议。然而，对于应该研究和筛查的患者群体和个体，尚未达成普遍共识。我们展示了一个示范性病例，并回顾了有关遗传性和家族性 PDAC 的现有数据。
