Pancreatic Cancer and the Family Connection: The Role of Advanced Practitioners in Screening and Educating Genetically At-Risk Individuals.

Tracy Lowe, Jane Deluca, Ludovico Abenavoli, Luigi Boccuto
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Abstract

Pancreatic cancer is the third leading cause of cancer deaths in the United States. It has a 95% mortality rate within 5 years of the initial diagnosis. Pancreatic ductal adenocarcinoma is the most commonly diagnosed histotype. The average age at diagnosis is 70 years. Familial forms of pancreatic cancer have been associated with pathogenic variants in predisposing genes, including ATM, BRCA1, BRCA2, PALB2, CDKN2A, STK11, MLH1, and MSH2. Collecting information on the patient's family history may serve as a primary tool to screen an individual's risk for familial pancreatic cancer. More advanced screening options for individuals at risk include endoscopic ultrasonography, magnetic resonance imaging, and magnetic resonance cholangiopancreatography. Due to pancreatic cancer's high mortality rate, routine screening of individuals at risk for developing familial pancreatic cancer may result in early diagnosis and improved survivability. This review aims to characterize the genetic risk factors associated with pancreatic cancer and recognize available screening options for at-risk individuals.

癌症与家庭联系:高级医师在基因高危个体筛查和教育中的作用。
癌症是美国癌症死亡的第三大原因。在最初诊断的5年内死亡率为95%。胰腺导管腺癌是最常见的诊断组织类型。诊断时的平均年龄为70岁。癌症的家族形式与易感基因的致病性变异有关,包括ATM、BRCA1、BRCA2、PALB2、CDKN2A、STK11、MLH1和MSH2。收集患者的家族史信息可以作为筛查个人患家族性癌症风险的主要工具。针对高危个体的更先进的筛查选择包括内镜超声检查、磁共振成像和磁共振胰胆管造影。由于癌症的高死亡率,对有患家族性癌症风险的个体进行常规筛查可能会导致早期诊断和提高生存能力。这篇综述旨在描述与胰腺癌症相关的遗传风险因素,并识别风险个体的可用筛查选择。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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