Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/42818
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Type: Journal article
Title: Inheritance of a cancer-associated MLH1 germ-line epimutation
Author: Hitchins, M.
Wong, J.
Suthers, G.
Suter, C.
Martin, D.
Hawkins, N.
Ward, R.
Citation: New England Journal of Medicine, 2007; 356(7):697-705
Publisher: Massachusetts Medical Soc
Issue Date: 2007
ISSN: 0028-4793
1533-4406
Abstract: Persons who have hypermethylation of one allele of MLH1 in somatic cells throughout the body (a germ-line epimutation) have a predisposition for the development of cancer in a pattern typical of hereditary nonpolyposis colorectal cancer. By studying the families of two such persons, we found evidence that the epimutation was transmitted from a mother to her son but was erased in his spermatozoa. The affected maternal allele was inherited by three other siblings from these two families, but in those offspring the allele had reverted to the normal active state. These findings demonstrate a novel pattern of inheritance of cancer susceptibility and are consistent with transgenerational epigenetic inheritance.
Keywords: Spermatozoa; Humans; Colorectal Neoplasms, Hereditary Nonpolyposis; Genetic Predisposition to Disease; Adaptor Proteins, Signal Transducing; Carrier Proteins; Nuclear Proteins; Pedigree; DNA Methylation; Gene Expression; Epigenesis, Genetic; Inheritance Patterns; Germ-Line Mutation; Polymorphism, Single Nucleotide; Aged; Middle Aged; Female; Male; MutL Protein Homolog 1
RMID: 0020070117
DOI: 10.1056/NEJMoa064522
Appears in Collections:Paediatrics publications

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