Primary constitutional MLH1 epimutations: a focal epigenetic event

[1]  I. Sancho-Martinez,et al.  Integration of CpG-free DNA induces de novo methylation of CpG islands in pluripotent stem cells , 2017, Science.

[2]  D. Aoki,et al.  Methylation Analysis of DNA Mismatch Repair Genes Using DNA Derived from the Peripheral Blood of Patients with Endometrial Cancer: Epimutation in Endometrial Carcinogenesis , 2016, Genes.

[3]  M. Hitchins.  Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation , 2016, Familial Cancer.

[4]  P. Peltomäki.  Update on Lynch syndrome genomics , 2016, Familial Cancer.

[5]  M. A. Sloane,et al.  Mosaic Epigenetic Inheritance as a Cause of Early-Onset Colorectal Cancer. , 2015, JAMA oncology.

[6]  M. Hitchins.  Constitutional epimutation as a mechanism for cancer causality and heritability? , 2015, Nature Reviews Cancer.

[7]  Á. Carracedo,et al.  Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer , 2015, Journal of Medical Genetics.

[8]  A. Viel,et al.  Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family. , 2015, Carcinogenesis.

[9]  Christopher D. Heinen,et al.  Milestones of Lynch syndrome: 1895–2015 , 2015, Nature Reviews Cancer.

[10]  M. Genuardi,et al.  MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria , 2014, Epigenetics.

[11]  Lars Feuk,et al.  The Database of Genomic Variants: a curated collection of structural variation in the human genome , 2013, Nucleic Acids Res..

[12]  U. Ladabaum,et al.  The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype , 2013, European Journal of Human Genetics.

[13]  T. Dobbins,et al.  Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry , 2012, Genetics in Medicine.

[14]  S. Gruber,et al.  MLH1 methylation screening is effective in identifying epimutation carriers , 2012, European Journal of Human Genetics.

[15]  M. Crépin,et al.  Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility , 2012, Human mutation.

[16]  S. Ingvarsson,et al.  Spreading of Alu Methylation to the Promoter of the MLH1 Gene in Gastrointestinal Cancer , 2011, PloS one.

[17]  R. Ward,et al.  Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR. , 2011, Cancer cell.

[18]  M. Kloor,et al.  Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome , 2011, Journal of Medical Genetics.

[19]  C. Boland,et al.  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 , 2011, International journal of cancer.

[20]  N. Rosenberg,et al.  MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. , 2010, Cancer research.

[21]  R. Ward,et al.  Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome , 2010, Familial Cancer.

[22]  H. Hollema,et al.  Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome , 2009, Genes, chromosomes & cancer.

[23]  M. Ridanpää,et al.  Large genomic rearrangements and germline epimutations in Lynch syndrome , 2009, International journal of cancer.

[24]  M. Ebert,et al.  Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC , 2008, European Journal of Human Genetics.

[25]  David I. K. Martin,et al.  Inheritance of a cancer-associated MLH1 germ-line epimutation. , 2007, The New England journal of medicine.

[26]  M. Urioste,et al.  MLH1 germline epimutations in selected patients with early‐onset non‐polyposis colorectal cancer , 2007, Clinical genetics.

[27]  Megan Hitchins,et al.  MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. , 2005, Gastroenterology.

[28]  A. Lindblom,et al.  Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. , 2003, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[29]  Mario Huerta,et al.  Identification of patterns in biological sequences at the ALGGEN server: PROMO and MALGEN , 2003, Nucleic Acids Res..

[30]  Xavier Messeguer,et al.  PROMO: detection of known transcription regulatory elements using species-tailored searches , 2002, Bioinform..

[31]  T. Smyrk,et al.  An update on Lynch syndrome. , 1998, Current opinion in oncology.

[32]  David I. K. Martin,et al.  Germline epimutation of MLH1 in individuals with multiple cancers , 2004, Nature Genetics.