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Deletion of the MGMT gene in familial melanoma.

Journal article
Authors Frida Appelqvist
Maria Yhr
Anna Erlandson
Tommy Martinsson
Charlotta Enerbäck
Published in Genes, chromosomes & cancer
Volume 53
Issue 8
Pages 703-11
ISSN 1098-2264
Publication year 2014
Published at
Pages 703-11
Language en
Subject categories Medical Genetics


The DNA repair gene MGMT (O-6-methylguanine-DNA methyltransferase) is important for maintaining normal cell physiology and genomic stability. Alterations in MGMT play a critical role in the development of several types of cancer, including glioblastoma, lung cancer, and colorectal cancer. The purpose of this study was to explore the function of genetic alterations in MGMT and their connection with familial melanoma (FM). Using multiplex ligation-dependent probe amplification, we identified a deletion that included the MGMT gene in one of 64 families with a melanoma predisposition living in western Sweden. The mutation segregated with the disease as a heterozygous deletion in blood-derived DNA, but a homozygous deletion including the promoter region and exon 1 was seen in tumor tissue based on Affymetrix 500K and 6.0 arrays. By sequence analysis of the MGMT gene in the other 63 families with FM from western Sweden, we identified four common polymorphisms, nonfunctional, as predominantly described in previous studies. We conclude that inherited alterations in the MGMT gene might be a rare cause of FM, and we suggest that MGMT contributes to melanoma predisposition.

Page Manager: Webmaster|Last update: 9/11/2012

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