Please use this identifier to cite or link to this item: https://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
DOI: 10.1056/NEJMoa064522
Appears in Collections:Aurora harvest 6
Paediatrics publications

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