A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years

American Journal of Medical Genetics

Volumn 140 A, Issue 3, 2006, Pages 195-199

  Müller, Annegret ^a   Schackert, Hans K ^b   Lange, Bettina ^a   Rüschoff, Josef ^c   Füzesi, Laslow ^a   Willert, Joerg ^d   Burfeind, Peter ^a   Shah, Parantu ^e   Becker, Heinz ^a   Epplen, Joerg Thomas ^d   Stemmler, Susanne ^d  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c KLINIKUM KASSEL   (Germany)

^d RUHR UNIVERSITY BOCHUM   (Germany)

^e Structural and Computational Biology Unit   (Germany)

Author keywords

Childhood; Colorectal cancer; Homozygous mutation; MMR system

Indexed keywords

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

ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN CANCER; CANCER DIAGNOSIS; CASE REPORT; COLORECTAL CANCER; DNA DETERMINATION; GENE EXPRESSION; GENE MUTATION; GERMLINE MUTATION; HEMATOLOGIC MALIGNANCY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTRON; KNOCKOUT MOUSE; MALE; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; GERM-LINE MUTATION; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MUTS HOMOLOG 2 PROTEIN; SIBLINGS;

EID: 31944433413     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.31070     Document Type: Article

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