Fitzgerald Rebecca C, Caldas Carlos
MRC Cancer Cell Unit, Hutchison/MRC Research Centre, Cambridge, UK.
Best Pract Res Clin Gastroenterol. 2006;20(4):735-43. doi: 10.1016/j.bpg.2006.03.013.
The clinical management of familial gastric cancer is the same as that for sporadic gastric cancer at the current time. As the causative mutations for these cases are identified this should lead to the development of specific treatments which target the molecular abnormality. The only germline mutations identified so far occur within the E-cadherin gene (CDHI) and they account for approximately 30% of familial gastric cancer cases. When index patients fulfilling the clinical criteria for hereditary diffuse gastric cancer syndrome have a CDHI mutation identified then genetic testing of asymptomatic relatives should be considered. The clinical sequelae of testing positive for such a mutation are profound and therefore it is essential that counselling is given prior to genetic testing. The management options are surveillance endoscopy and prophylactic gastrectomy. In this chapter the practicalities of genetic testing are discussed as well as the pros and cons of the two management options. It is essential that experience of these rare families is pooled so that surveillance and treatment can be optimised in the future.
目前，家族性胃癌的临床管理与散发性胃癌相同。随着这些病例致病突变的确定，这应会促使开发针对分子异常的特异性治疗方法。迄今为止，唯一确定的种系突变发生在E-钙黏蛋白基因（CDHI）内，它们约占家族性胃癌病例的30%。当符合遗传性弥漫性胃癌综合征临床标准的索引患者被确定存在CDHI突变时，应考虑对无症状亲属进行基因检测。检测出这种突变呈阳性的临床后果很严重，因此在基因检测前进行咨询至关重要。管理选择包括监测性内镜检查和预防性胃切除术。在本章中，将讨论基因检测的实际操作以及这两种管理选择的利弊。汇集这些罕见家族的经验至关重要，以便未来能优化监测和治疗。
