Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor

European Journal of Human Genetics

Volumn 14, Issue 5, 2006, Pages 561-566

  Plaschke, Jens ^a   Linnebacher, Michael ^b   Kloor, Matthias ^b   Gebert, Johannes ^b   Cremer, Friedrich W ^b   Tinschert, Sigrid ^a   Aust, Daniela E ^a   von Knebel Doeberitz, Magnus ^b   Schackert, Hans K ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Biallelic mutations; Colorectal cancer; HNPCC; Mismatch repair; MSH6

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN TUMOR; CAFE AU LAIT SPOT; CANCER PATIENT; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CASE REPORT; COLORECTAL CANCER; DISEASE COURSE; ENDOMETRIUM CANCER; FEMALE; GASTROINTESTINAL TUMOR; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CONSERVATION; GERM LINE; HEMATOLOGIC MALIGNANCY; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; NEUROFIBROMATOSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; STOP CODON; WESTERN BLOTTING;

ADULT; ALLELES; BASE PAIR MISMATCH; BRAIN NEOPLASMS; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR; DNA-BINDING PROTEINS; FEMALE; HEMATOLOGIC NEOPLASMS; HETEROZYGOTE; HUMANS; MICROSATELLITE REPEATS; MUTATION; PHENOTYPE; SKIN;

EID: 33646044700     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201568     Document Type: Article

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