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

European Journal of Human Genetics

Volumn 22, Issue 5, 2014, Pages 617-624

  Kwok, Chau To ^a   Vogelaar, Ingrid P ^b   Van Zelst Stams, Wendy A ^b   Mensenkamp, Arjen R ^b   Ligtenberg, Marjolijn J ^b   Rapkins, Robert W ^a   Ward, Robyn L ^a   Chun, Nicolette ^c   Ford, James M ^c   Ladabaum, Uri ^c   McKinnon, Wendy C ^d   Greenblatt, Marc S ^d   Hitchins, Megan P ^a,c  

^a UNIVERSITY OF NEW SOUTH WALES   (Australia)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

Author keywords

epimutation; founder haplotype; Lynch syndrome; MLH1

Indexed keywords

MISMATCH REPAIR PROTEIN; PROTEIN MLH1; MLH1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADENOMA; ADULT; ALLELE; ARTICLE; AUSTRALIA; CASE REPORT; CAUCASIAN; CHROMOSOME 3; CHROMOSOME 3P; COLONOSCOPY; COPY NUMBER VARIATION; DOMINANT INHERITANCE; FAMILY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOSITY LOSS; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MELANOMA; METHYLATION; MICROSATELLITE MARKER; MIDDLE AGED; MISMATCH REPAIR; MOLECULAR PATHOLOGY; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PEDIGREE; PRIORITY JOURNAL; SIBLING; CASE CONTROL STUDY; DNA METHYLATION; DOMINANT GENE; GENE EXPRESSION REGULATION; GENETIC EPIGENESIS; GENETIC TRANSCRIPTION; GENETICS; POINT MUTATION; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALLELES; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 3; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA COPY NUMBER VARIATIONS; DNA METHYLATION; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; EPIGENESIS, GENETIC; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE EXPRESSION REGULATION; GENES, DOMINANT; HAPLOTYPES; HUMANS; MALE; NUCLEAR PROTEINS; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; TRANSCRIPTION, GENETIC;

EID: 84898809472     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.200     Document Type: Article

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