MLH1 methylation screening is effective in identifying epimutation carriers

European Journal of Human Genetics

Volumn 20, Issue 12, 2012, Pages 1256-1264

  Pineda, Marta ^a   Mur, Pilar ^a   Iniesta, María Dolores ^b   Borràs, Ester ^a   Campos, Olga ^a   Vargas, Gardenia ^a   Iglesias, Sílvia ^a   Fernández, Anna ^a   Gruber, Stephen B ^b,c,d   Lázaro, Conxi ^a   Brunet, Joan ^e   Navarro, Matilde ^a   Blanco, Ignacio ^a   Capellá, Gabriel ^a  

^a BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF MICHIGAN SCHOOL OF PUBLIC HEALTH   (United States)

^d UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^e CATALAN INSTITUTE OF ONCOLOGY   (Spain)

Author keywords

constitutional epimutation; Lynch syndrome; methylation; MLH1; MS MLPA; pyrosequencing

Indexed keywords

BISULFITE; PROTEIN MLH1;

ADULT; AGED; ALLELE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DNA METHYLATION; DNA POLYMORPHISM; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SILENCING; GENETIC SCREENING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE; HUMAN; LYMPHOCYTE; MALE; MISMATCH REPAIR; PREVALENCE; PRIORITY JOURNAL; PYROSEQUENCING; SPERMATOZOON;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AGED, 80 AND OVER; ALLELES; CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA METHYLATION; EPIGENESIS, GENETIC; FEMALE; GENE SILENCING; GERM-LINE MUTATION; HAPLOTYPES; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; NUCLEAR PROTEINS; ORGAN SPECIFICITY; PEDIGREE; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION, GENETIC;

EID: 84869203280     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.136     Document Type: Article

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