Published in Fam Cancer on June 01, 2013
Constitutional epimutation as a mechanism for cancer causality and heritability? Nat Rev Cancer (2015) 0.92
Genetic predisposition to colorectal cancer: where we stand and future perspectives. World J Gastroenterol (2014) 0.90
The evolution of colorectal cancer genetics-Part 1: from discovery to practice. J Gastrointest Oncol (2014) 0.88
A seven-gene CpG-island methylation panel predicts breast cancer progression. BMC Cancer (2015) 0.82
MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria. Epigenetics (2014) 0.78
The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery. Cell Oncol (Dordr) (2016) 0.77
Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation. Fam Cancer (2016) 0.77
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst (2004) 14.97
CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat Genet (2006) 13.63
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology (1999) 11.94
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum (1991) 9.82
Epigenetics in cancer. Carcinogenesis (2009) 7.49
Epigenetic reprogramming in mammals. Hum Mol Genet (2005) 6.73
Inheritance of a cancer-associated MLH1 germ-line epimutation. N Engl J Med (2007) 4.87
Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet (2004) 4.74
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet (2008) 4.44
Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res (1998) 4.39
The inheritance of epigenetic defects. Science (1987) 4.15
Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology (1997) 3.97
Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. Nat Genet (2006) 3.89
Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology (1996) 3.54
Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database. Dis Markers (2004) 3.03
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet (2004) 2.75
Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res (2005) 2.41
Hereditary cancer: two hits revisited. J Cancer Res Clin Oncol (1996) 2.27
Microsatellite instability and the clinicopathological features of sporadic colorectal cancer. Gut (2001) 2.08
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. Lancet Oncol (2010) 1.98
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology (2005) 1.94
Incorporation of somatic BRAF mutation testing into an algorithm for the investigation of hereditary non-polyposis colorectal cancer. Fam Cancer (2007) 1.77
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology (2005) 1.70
Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. Am J Pathol (2003) 1.67
Promoter hypermethylation frequency and BRAF mutations distinguish hereditary non-polyposis colon cancer from sporadic MSI-H colon cancer. Fam Cancer (2004) 1.66
Extensive but hemiallelic methylation of the hMLH1 promoter region in early-onset sporadic colon cancers with microsatellite instability. Clin Gastroenterol Hepatol (2004) 1.64
Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR. Cancer Cell (2011) 1.56
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. Genes Chromosomes Cancer (2009) 1.43
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC. Eur J Hum Genet (2008) 1.25
Large genomic rearrangements and germline epimutations in Lynch syndrome. Int J Cancer (2009) 1.24
Epimutations and cancer predisposition: importance and mechanisms. Curr Opin Genet Dev (2010) 1.20
Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. J Clin Oncol (2003) 1.18
MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer. Clin Genet (2007) 1.17
Methylation of hMLH1 promoter correlates with the gene silencing with a region-specific manner in colorectal cancer. Br J Cancer (2002) 1.16
Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome. J Med Genet (2011) 1.15
DNA methylation analysis by MethyLight technology. Methods (2001) 1.15
Genotype and phenotype in hereditary nonpolyposis colon cancer: a study of families with different vs. shared predisposing mutations. Fam Cancer (2001) 1.11
Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet (2009) 1.11
Methylation of the 3p22 region encompassing MLH1 is representative of the CpG island methylator phenotype in colorectal cancer. Mod Pathol (2010) 1.11
Analysis of gene-specific DNA methylation patterns by pyrosequencing technology. Methods Mol Biol (2007) 1.09
Tumorigenesis in colorectal tumors from patients with hereditary non-polyposis colorectal cancer. Hum Genet (1997) 1.06
Hereditary nonpolyposis colorectal cancer (HNPCC). Cytogenet Cell Genet (1999) 1.05
Erasure of MLH1 methylation in spermatozoa-implications for epigenetic inheritance. Nat Genet (2007) 1.04
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. Hum Mutat (2011) 1.03
De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one. Int J Cancer (2011) 1.02
Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry. Genet Med (2012) 0.99
Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion. Am J Gastroenterol (2011) 0.97
Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. Clin Genet (2005) 0.96
Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition? BMC Cancer (2010) 0.91
Germline hMLH1 promoter mutation in a Newfoundland HNPCC kindred. Clin Genet (2003) 0.88
Identification of germline MLH1 alterations in familial prostate cancer. Eur J Cancer (2006) 0.87
Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? Eur J Med Res (2001) 0.87
Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort. Clin Genet (2011) 0.86
Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families. Hum Mutat (2003) 0.86
MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer families. World J Gastroenterol (2008) 0.85
MLH1 methylation screening is effective in identifying epimutation carriers. Eur J Hum Genet (2012) 0.85
Intensity-dependent constitutional MLH1 promoter methylation leads to early onset of colorectal cancer by affecting both alleles. Genes Chromosomes Cancer (2010) 0.84
Germline promoter hypermethylation of tumor suppressor genes in gastric cancer. World J Gastroenterol (2012) 0.77