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FLASH GENE

Symbol

MGMT

contributors: mct/npt - updated : 15-12-2009

HGNC name	O-6-methylguanine-DNA methyltransferase
HGNC id	7059

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   expression in the tumors inversely linked to hypermethylation of the CpG island in the promoter region tumoral       loss of function by hypermethylation in non seminoma germ cell tumor tumoral     --low   by methylation frequently observed in sporadic colorectal cancer and recently correlated with the C>T allele at SNP rs16906252, within the transcriptional enhancer element of the promoter (Hawkins 2009)

Susceptibility

to esophageal adenocarcinoma (EAC)

Variant & Polymorphism SNP	SNPs are associated with increased risks of EAC and exposure to acid reflux, and possibly smoking, confer markedly higher risks among homozygous variant genotype carriers (Doecke 2008)

Candidate gene	detection of methylation of the gene in blood might have utility in monitoring and detecting tumor recurrence in early-stage non-small cell lung cancer after curative surgical resection
Marker
Therapy target

ANIMAL & CELL MODELS