Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.

doi:10.1200/JCO.2005.03.7333

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Article

Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 10 Sept 2006

Goecke Timm, Schulmann Karsten, Engel Christoph, Holinski-Feder Elke, Pagenstecher Constanze, Schackert Hans K, Kloor Matthias, Kunstmann Erdmute, Vogelsang Holger, Keller Gisela, Dietmaier Wolfgang, Mangold Elisabeth, Friedrichs Nicolaus, Propping Peter, Krüger Stefan, Gebert Johannes, Schmiegel Wolff, Rueschoff Josef, Loeffler Markus, Moeslein Gabriela

Abstract excerpt

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....

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Identifiers

PMID: 16908935
DOI: 10.1200/JCO.2005.03.7333

Genes

MSH2
MLH1

Provenance

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