MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.

doi:10.1158/0008-5472.CAN-10-0570

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Article

MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.

Cancer research - 1 Oct 2010

Borràs Ester, Pineda Marta, Blanco Ignacio, Jewett Ethan M, Wang Fei, Teulé Alex, Caldés Trinidad, Urioste Miguel, Martínez-Bouzas Cristina, Brunet Joan, Balmaña Judith, Torres Asunción, Ramón y Cajal Teresa, Sanz Judit, Pérez-Cabornero Lucía, Castellví-Bel Sergi, Alonso Angel, Lanas Angel, González Sara, Moreno Víctor, Gruber Stephen B, Rosenberg Noah A, Mukherjee Bhramar, Lázaro Conxi, Capellá Gabriel

Abstract excerpt

The variants c.306+5G>A and c.1865T>A (p.Leu622His) of the DNA repair gene MLH1 occur frequently in Spanish Lynch syndrome families. To understand their ancestral history and clinical effect, we performed functional assays and a penetrance analysis and studied their genetic and geographic origins. Detailed family histories were taken from 29 carrier families. Functional analysis included in silico and in vitro...

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PMID: 20858721
DOI: 10.1158/0008-5472.CAN-10-0570

Genes

MLH1

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