Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with lynch syndrome:: A report by the German HNPCC Consortium
Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with lynch syndrome:: A report by the German HNPCC Consortium
复制标题
DOI：
10.1200/jco.2005.03.7333
复制
发表时间：
2006-09-10
影响因子：
45.3
通讯作者：
Moeslein, Gabriela
中科院分区：
文献类型：
--
作者：
Goecke, Timm;Schulmann, Karsten;Moeslein, Gabriela
目的林奇综合征与错配修复基因的种系突变有关。我们分析了迄今为止报告的最大队列中的基因型-表型相关性。 患者和方法按照标准算法，我们在 574 个不相关的家族中鉴定出 281 个家族在 MLH1 (n = 124) 或 MSH2 (n = 157) 中存在有害种系突变。该分析共纳入了 988 名患有 1,381 种癌症的患者。结果我们分别确定了 181 名和 259 名已证实或强制性的患者，以及 254 名和 294 名假定的 MLH1 和 MSH2 突变患者。就首次癌症而言，诊断时的年龄更年轻（40 岁 vs 43 岁；P
PurposeLynch syndrome is linked to germline mutations in mismatch repair genes. We analyzed the genotype-phenotype correlations in the largest cohort so far reported.Patients and MethodsFollowing standard algorithms, we identified 281 of 574 unrelated families with deleterious germline mutations in MLH1 (n = 124) or MSH2 (n = 157). A total of 988 patients with 1,381 cancers were included in this analysis.ResultsWe identified 181 and 259 individuals with proven or obligatory and 254 and 294 with assumed MLH1 and MSH2 mutations, respectively. Age at diagnosis was younger both in regard to first cancer (40 v 43 years; P