Biallelic MUTYH mutations can mimic Lynch syndrome

European Journal of Human Genetics

Volumn 22, Issue 11, 2014, Pages 1334-1337

  Morak, Monika ^a,b   Heidenreich, Barbara ^a   Keller, Gisela ^c   Hampel, Heather ^d   Laner, Andreas ^b   De La Chapelle, Albert ^d   Holinski Feder, Elke ^a,b,e  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b MGZ Medizinisch Genetisches Zentrum   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d OHIO STATE UNIVERSITY   (United States)

^e MGZ Center of Medical Genetics   (Germany)

Author keywords

base excision repair; DNA mismatch repair; immunohistochemistry; Lynch syndrome; MUTYH; somatic mutations

Indexed keywords

APC PROTEIN; DNA; DNA GLYCOSYLASE MUTY; K RAS PROTEIN; PROTEIN MSH2; PROTEIN MSH6; DNA GLYCOSYLTRANSFERASE;

ADULT; AGED; ARTICLE; CANCER PATIENT; COLORECTAL CANCER; CONTROLLED STUDY; FAMILY HISTORY; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GERMLINE MUTATION; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; MIDDLE AGED; MISMATCH REPAIR; NUCLEOTIDE SEQUENCE; PROTEIN EXPRESSION; SEBACEOUS CARCINOMA; SOMATIC MUTATION; TRANSITIONAL CELL CARCINOMA; ALLELE; DNA REPAIR; EXON; FEMALE; GENETICS; HOMOZYGOTE; MALE; METABOLISM; PEDIGREE;

ADULT; ALLELES; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA GLYCOSYLASES; DNA MISMATCH REPAIR; DNA MUTATIONAL ANALYSIS; DNA REPAIR; EXONS; FEMALE; GERM-LINE MUTATION; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; PEDIGREE;

EID: 84908553713     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.15     Document Type: Article

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