Hereditary diffuse gastric cancer and tylosis are autosomal dominant cancer susceptibility syndromes. Accumulating evidence also suggests a genetic contribution to Barrett's esophagus and adenocarcinoma, traditionally considered acquired disorders. In this article we review the current knowledge on the genetic mechanisms underlying hereditary diffuse gastric cancer, tylosis, and Barrett's esophagus. Hereditary diffuse gastric cancer is a paradigm for hereditary cancer susceptibility syndromes with E-cadherin implicated as the dominant oncogene in up to one-third of cases. Tylosis in contrast remains the paradox as whilst the putative abnormality has been localized to the long arm of chromosome 17, sequencing of this region has failed to reveal a disease causing mutation. In the case of Barrett's esophagus and adenocarcinoma, although a validated specific disease-associated gene is yet to be identified, the increasing body of evidence of a possible genetic link is paving the way for subsequent prognostic studies such as AspECT (Aspirin Esomeprazole Chemoprevention Trial). For the clinician these advances in understanding are already having implications for practice in terms of improved screening and the stratification of management strategies. As the mechanisms continue to be defined, there is the real possibility that these mechanisms could be exploited or subverted in the design of new therapies. In the meantime, however, clinicians should undertake rigorous biopsy programs to ensure early invasive lesions are detected.

译文

:遗传性弥漫性胃癌和Tylosis是常染色体显性遗传易感性综合征。越来越多的证据还表明,对巴雷特的食道和腺癌(传统上认为是获得性疾病)有遗传贡献。在本文中,我们回顾了有关遗传性弥漫性胃癌,Tylosis和Barrett食道的遗传机制的最新知识。遗传性弥漫性胃癌是遗传性癌症易感性综合征的范例,在多达三分之一的病例中,E-钙粘着蛋白被认为是主要的癌基因。相反,由于假定的异常定位在第17号染色​​体的长臂上,因此Tylosis仍然是一个悖论。对该区域的测序未能揭示引起突变的疾病。就Barrett食道和腺癌而言,尽管尚未确定经过验证的与疾病相关的特定基因,但越来越多的可能的遗传关联证据为诸如AspECT(阿司匹林,埃索美拉唑化学预防试验)等后续预后研究铺平了道路。 。对于临床医生而言,这些理解的进步已经对改善筛查和管理策略分层方面的实践产生了影响。随着机制的不断定义,在新疗法的设计中很可能会利用或颠覆这些机制。但是,与此同时,临床医生应进行严格的活检程序,以确保早期发现侵袭性病变。

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