Microsatellite instability: an update

H Yamamoto, K Imai - Archives of toxicology, 2015 - Springer
Deficient DNA mismatch repair (MMR) results in a strong mutator phenotype known as
microsatellite instability (MSI), which is a hallmark of Lynch syndrome-associated cancers …

Carcinogenesis and microsatellite instability: the interrelationship between genetics and epigenetics

K Imai, H Yamamoto - Carcinogenesis, 2008 - academic.oup.com
DNA mismatch repair (MMR) deficiency results in a strong mutator phenotype and high-
frequency microsatellite instability (MSI-H), which are the hallmarks of tumors arising within …

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1

MJL Ligtenberg, RP Kuiper, TL Chan, M Goossens… - Nature …, 2009 - nature.com
Lynch syndrome patients are susceptible to colorectal and endometrial cancers owing to
inactivating germline mutations in mismatch repair genes, including MSH2 (ref.). Here we …

Cancer epigenetics

PW Laird - Human molecular genetics, 2005 - academic.oup.com
The field of cancer epigenetics is evolving rapidly on several fronts. Advances in our
understanding of chromatin structure, histone modification, transcriptional activity and DNA …

Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study

MA Jenkins, S Hayashi, AM O'shea, LJ Burgart… - Gastroenterology, 2007 - Elsevier
Background & Aims: The revised Bethesda guidelines for Lynch syndrome recommend
microsatellite instability (MSI) testing all colorectal cancers in patients diagnosed before age …

[HTML][HTML] Inheritance of a Cancer-Associated MLH1 Germ-Line Epimutation

MP Hitchins, JJL Wong, G Suthers… - … England Journal of …, 2007 - Mass Medical Soc
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 …

Microsatellite instability in colorectal cancer

K Söreide, EAM Janssen, H Söiland… - Journal of British …, 2006 - academic.oup.com
Background Microsatellite instability (MSI) causes hereditary non-polyposis colorectal
cancer (HNPCC), and occurs in about 15 per cent of sporadic colorectal cancers. Although …

Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer

TL Chan, ST Yuen, CK Kong, YW Chan, ASY Chan… - Nature …, 2006 - nature.com
Epimutations in the germline, such as methylation of the MLH1 gene, may contribute to
hereditary cancer syndrome in human, but their transmission to offspring has never been …

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

RC Niessen, RMW Hofstra, H Westers… - Genes …, 2009 - Wiley Online Library
It was shown that Lynch syndrome can be caused by germline hypermethylation of the
MLH1 and MSH2 promoters. Furthermore, it has been demonstrated very recently that …

Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5′ UTR

MP Hitchins, RW Rapkins, CT Kwok, S Srivastava… - Cancer cell, 2011 - cell.com
Constitutional epimutations of tumor suppressor genes manifest as promoter methylation
and transcriptional silencing of a single allele in normal somatic tissues, thereby …