Signs and genetics of rare cancer syndromes with gastroenterological features
Signs and genetics of rare cancer syndromes with gastroenterological features作者机构：Genetics of Rare CancersDepartment of Internal Medicine and Medical SpecialtiesUniversity of Genoa Medical Oncology Unit
出 版 物：《World Journal of Gastroenterology》 (世界胃肠病学杂志（英文版）)
年 卷 期：2015年第21卷第30期
页 面：8985-8993页
核心收录：
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
基 金：Supported by Grants from the Italian Ministry of Health 5 per 1000 AIRC 15460 and Genoa Atheneum 2014(to Ghiorzo P)
主 题：Genetic susceptibility Diagnostic criteria Gastroenterological features Genetic testing Rarecancer syndromes
摘 要：Although the genetic bases of most hereditary cancer syndromes are known,and genetic tests are available for them,the incidence of the most rare of these syndromes is likely underestimated,partially because the clinical expression is neither fully understood nor easily diagnosed due to the variable and complex expressivity. The clinical features of a small pool of rare cancer syndromes include gastroenterological signs,though not necessarily tumors,that could require the intervention of a gastroenterologist during any of the phases of the clinical management. Herein we will attempt to spread the knowledge on these rare syndromes by summarizing the phenotype and genetic basis,and revising the peculiar gastroenterological signs whose underlying role in these rare hereditary cancer syndromes is often neglected. Close collaboration between geneticists and gastroenterologists could facilitate both the early identification of patients or relatives at-risk and the planning of multidisciplinary and tailored management of these subjects.
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