DNA methyltransferases, DNA damage repair, and cancer

B Jin, KD Robertson - Epigenetic alterations in oncogenesis, 2012 - Springer
The maintenance DNA methyltransferase (DNMT) 1 and the de novo methyltransferases
DNMT3A and DNMT3B are all essential for mammalian development. DNA methylation …

Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour …

MT Parsons, DD Buchanan, B Thompson… - Journal of medical …, 2012 - jmg.bmj.com
Colorectal cancer (CRC) that demonstrates microsatellite instability (MSI) is caused by either
germline mismatch repair (MMR) gene mutations, or 'sporadic'somatic tumour MLH1 …

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 …

Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome …

J Shia - The Journal of molecular diagnostics, 2008 - Elsevier
The utility of immunohistochemical detection of DNA mismatch repair (MMR) protein in
screening colorectal tumors for hereditary nonpolyposis colorectal cancer (HNPCC) …

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 …

[HTML][HTML] ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH …

M Hegde, M Ferber, R Mao, W Samowitz… - Genetics in …, 2014 - nature.com
Lynch syndrome, familial adenomatous polyposis, and Mut Y homolog (MYH)-associated
polyposis are three major known types of inherited colorectal cancer, which accounts for up …

[HTML][HTML] Genetic predisposition to colorectal cancer: where we stand and future perspectives

L Valle - World journal of gastroenterology: WJG, 2014 - ncbi.nlm.nih.gov
The development of colorectal cancer (CRC) can be influenced by genetic factors in both
familial cases and sporadic cases. Familial CRC has been associated with genetic changes …

Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer

MP Hitchins, RL Ward - Journal of medical genetics, 2009 - jmg.bmj.com
Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant syndrome
characterised by a predisposition to early onset colorectal, endometrial and other cancers …

[HTML][HTML] Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases

K Rumilla, KV Schowalter, NM Lindor… - The Journal of Molecular …, 2011 - Elsevier
Lynch syndrome is an autosomal dominant cancer predisposition syndrome characterized
by loss of function of DNA mismatch repair enzyme MLH1, MSH2, MSH6, or PMS2 …

Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC)

K Newton, NM Jorgensen, AJ Wallace… - Journal of medical …, 2014 - jmg.bmj.com
Background and aims Lynch syndrome (LS) patients have DNA mismatch repair deficiency
and up to 80% lifetime risk of colorectal cancer (CRC). Screening of mutation carriers …