作者
Timm Goecke, Karsten Schulmann, Christoph Engel, Elke Holinski-Feder, Constanze Pagenstecher, Hans K Schackert, Matthias Kloor, Erdmute Kunstmann, Holger Vogelsang, Gisela Keller, Wolfgang Dietmaier, Elisabeth Mangold, Nicolaus Friedrichs, Peter Propping, Stefan Krüger, Johannes Gebert, Wolff Schmiegel, Josef Rueschoff, Markus Loeffler, Gabriela Moeslein
发表日期
2006/9/10
期刊
Journal of clinical oncology
卷号
24
期号
26
页码范围
4285-4292
出版商
American Society of Clinical Oncology
简介
Purpose
Lynch 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 Methods
Following 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.
Results
We 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 < .009) and to first colorectal cancer (CRC; 41 v 44 years; P = .004) in MLH1 (n = 435) versus MSH2 (n = 553) mutation carriers. In both groups, rectal cancers were remarkably frequent, and the time span between first and second CRC was …
引用总数
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T Goecke, K Schulmann, C Engel, E Holinski-Feder… - Journal of clinical oncology, 2006