南美洲林奇综合征家族的突变谱
Mutation spectrum in South American Lynch syndrome families.
作者信息
Dominguez-Valentin Mev, Nilbert Mef, Wernhoff Patrik, López-Köstner Francisco, Vaccaro Carlos, Sarroca Carlos, Palmero Edenir Ines, Giraldo Alejandro, Ashton-Prolla Patricia, Alvarez Karin, Ferro Alejandra, Neffa Florencia, Caris Junea, Carraro Dirce M, Rossi Benedito M
机构信息
The Danish HNPCC Register, Clinical Research Centre, Hvidovre Hospital, Copenhagen University, Hvidovre, Denmark.
出版信息
Hered Cancer Clin Pract. 2013 Dec 18;11(1):18. doi: 10.1186/1897-4287-11-18.
BACKGROUND
Genetic counselling and testing for Lynch syndrome have recently been introduced in several South American countries, though yet not available in the public health care system.
METHODS
We compiled data from publications and hereditary cancer registries to characterize the Lynch syndrome mutation spectrum in South America. In total, data from 267 families that fulfilled the Amsterdam criteria and/or the Bethesda guidelines from Argentina, Brazil, Chile, Colombia and Uruguay were included.
RESULTS
Disease-predisposing mutations were identified in 37% of the families and affected MLH1 in 60% and MSH2 in 40%. Half of the mutations have not previously been reported and potential founder effects were identified in Brazil and in Colombia.
CONCLUSION
The South American Lynch syndrome mutation spectrum includes multiple new mutations, identifies potential founder effects and is useful for future development of genetic testing in this continent.
背景
最近，南美洲几个国家已引入林奇综合征的遗传咨询和检测，不过公共卫生保健系统尚未提供。
方法
我们汇总了来自出版物和遗传性癌症登记处的数据，以描述南美洲林奇综合征的突变谱。总共纳入了来自阿根廷、巴西、智利、哥伦比亚和乌拉圭的267个符合阿姆斯特丹标准和/或贝塞斯达指南的家庭的数据。
结果
在37%的家庭中发现了疾病易感性突变，其中60%影响MLH1，40%影响MSH2。一半的突变此前未曾报道，并且在巴西和哥伦比亚发现了潜在的奠基者效应。
结论
南美洲林奇综合征的突变谱包括多个新突变，确定了潜在的奠基者效应，并且对该大陆未来基因检测的发展很有用。
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