A novel pathogenic <it>MLH1 </it>missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome

A novel pathogenic <it>MLH1 </it>missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome

<p>Abstract</p> <p>Background</p> <p>An unclassified variant (UV) in exon 1 of the <it>MLH1 </it>gene, c.112A > C, p.Asn38His, was found in six families who meet diagnostic criteria for Lynch syndrome. The pathogenicity of this variant was unknown. We aim...

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Bibliographic Details
Main Authors: van Riel Els, Ausems Margreet GEM, Hogervorst Frans BL, Kluijt Irma, van Gijn Marielle E, van Echtelt Jeanne, Scheidel-Jacobse Karen, Hennekam Eric FAM, Stulp Rein P, Vos Yvonne J, Offerhaus G Johan A, Menko Fred H, Gille Johan JP
Format: Article
Language:English
Published: BMC 2010-08-01
Series:Hereditary Cancer in Clinical Practice
Online Access:http://www.hccpjournal.com/content/8/1/7

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