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对有胰腺癌家族史和遗传性癌症综合征个体的监测:一种检测早期胰腺癌的策略。

Surveillance of Individuals with a Family History of Pancreatic Cancer and Inherited Cancer Syndromes: A Strategy for Detecting Early Pancreatic Cancers.

作者信息

Matsubayashi Hiroyuki, Kiyozumi Yoshimi, Ishiwatari Hirotoshi, Uesaka Katsuhiko, Kikuyama Masataka, Ono Hiroyuki

机构信息

Division of Endoscopy, Shizuoka Cancer Center, Shizuoka 411-8777, Japan.

Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Shizuoka 411-8777, Japan.

出版信息

Diagnostics (Basel). 2019 Oct 31;9(4):169. doi: 10.3390/diagnostics9040169.

Abstract

A family history of pancreatic cancer (PC) is a risk factor of PC, and risk levels increase as affected families grow in number and/or develop PC at younger ages. Familial pancreatic cancer (FPC) is defined as a client having at least two PC cases in a first degree relatives. In the narrow sense, FPC does not include some inherited cancer syndromes that are known to increase the risks of PC, such as Peutz-Jeghers syndrome (PJS), hereditary pancreatitis (HP), hereditary breast ovarian cancer syndrome (HBOC), and so on. FPC accounts for 5%-10% of total PC diagnoses and is marked by several features in genetic, epidemiological, and clinicopathological findings that are similar to or distinct from conventional PC. Recent advances in genetic medicine have led to an increased ability to identify germline variants of cancer-associated genes. To date, high-risk individuals (HRIs) in many developed countries, including FPC kindreds and inherited cancer syndromes, are screened clinically to detect and treat early-stage PC. This article highlights the concept of FPC and the most recent data on its detection.

摘要

胰腺癌(PC)家族史是胰腺癌的一个风险因素,随着受影响家族数量的增加和/或在较年轻时患胰腺癌,风险水平会升高。家族性胰腺癌(FPC)定义为客户在一级亲属中有至少两例胰腺癌病例。狭义上,FPC不包括一些已知会增加患胰腺癌风险的遗传性癌症综合征,如黑斑息肉综合征(PJS)、遗传性胰腺炎(HP)、遗传性乳腺癌卵巢癌综合征(HBOC)等。FPC占胰腺癌总诊断病例的5%-10%,其在遗传、流行病学和临床病理特征方面有几个特点,与传统胰腺癌相似或不同。遗传医学的最新进展提高了识别癌症相关基因种系变异的能力。迄今为止,包括FPC家族和遗传性癌症综合征在内的许多发达国家的高危个体(HRIs)都接受临床筛查,以检测和治疗早期胰腺癌。本文重点介绍了FPC的概念及其检测的最新数据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ba2/6963266/363f63169584/diagnostics-09-00169-g001.jpg

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