PDF(Pubmed)
Abstract：
Despite recent campaigns for screening and the latest advances in cancer therapy and molecular biology, gastrointestinal (GI) neoplasms remain among the most frequent and lethal human tumors. Most GI neoplasms are sporadic, but there are some well-known familial syndromes associated with a significant risk of developing both benign and malignant GI tumors. Although some of these entities were described more than a century ago based on clinical grounds, the increasing molecular information obtained with high-throughput techniques has shed light on the pathogenesis of several of them. The vast amount of information gained from next-generation sequencing has led to the identification of some high-risk genetic variants, although others remain to be discovered. The opportunity for genetic assessment and counseling in these families has dramatically changed the management of these syndromes, though it has also resulted in significant psychological distress for the affected patients, especially those with indeterminate variants. Herein, we aim to summarize the most relevant hereditary cancer syndromes involving the stomach and colon, with an emphasis on new molecular findings, novel entities, and recent changes in the management of these patients.
摘要：
尽管最近的筛查运动和癌症治疗和分子生物学的最新进展，胃肠道（GI）肿瘤仍然是最常见和最致命的人类肿瘤之一。大多数胃肠道肿瘤是散发性的，但是有一些众所周知的家族综合征与发生良性和恶性胃肠道肿瘤的显著风险相关.尽管其中一些实体是在一个多世纪前根据临床理由描述的，通过高通量技术获得的越来越多的分子信息揭示了其中几种的发病机理。从下一代测序中获得的大量信息导致了一些高风险遗传变异的鉴定，尽管其他人仍有待发现。在这些家庭中进行遗传评估和咨询的机会极大地改变了这些综合征的管理，尽管这也给受影响的患者带来了巨大的心理困扰，尤其是那些具有不确定变体的。在这里，我们的目的是总结最相关的遗传性癌症综合征，涉及胃和结肠，强调新的分子发现，新颖的实体，以及最近这些患者管理的变化。
