Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis

Human Mutation

Volumn 9, Issue 1, 1997, Pages 7-16

  Van Der Luijt, Rob B ^a   Khan, P Meera ^a   Vasen, Hans F A ^b   Tops, Carli M J ^a   Van Leeuwen Cornelisse, Inge S J ^a   Wijnen, Juul Th ^b   Van Der Klift, Heleen M ^a   Plug, Rob J ^b   Griffioen, Gerrit ^c   Fodde, Riccardo ^a  

^a LEIDEN UNIVERSITY   (Netherlands)

^b C/o University Medical Center ^*  (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

APC gene; familial adenomatous polyposis; germline mutations; presymptomatic diagnosis

Indexed keywords

DNA;

ADENOMATOUS POLYP; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANCER SUSCEPTIBILITY; COLORECTAL CANCER; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; GENE MUTATION; GENE REARRANGEMENT; GENETIC PREDISPOSITION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NETHERLANDS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SOUTHERN BLOTTING;

ADENOMATOUS POLYPOSIS COLI; BLOTTING, SOUTHERN; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXONS; FEMALE; GENE REARRANGEMENT; GENES, APC; GERM-LINE MUTATION; HUMANS; MALE; NETHERLANDS; PEDIGREE;

EID: 16944362068     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:1<7::AID-HUMU2>3.0.CO;2-8     Document Type: Article

References (6)

1. Béroud C, Soussi T (1996) APC gene: Database of germline and somatic mutations in human tumors and cell lines. Nucleic Acids Res 24:121-124.
2. Bussey HJR (1975) Familial Polyposis Coli. Johns Hopkins University Press, Baltimore.
3. Cooper DA, Krawczak M (1996) Human gene mutation database (accessible through the Institute of Medical Genetics, University of Wales College of Medicine in Cardiff, UK on world wide web at location http://www.cf.ac.uk/uwcm/mg/hgmd0.html).
4. De Vries EMG, Ricke DO, De Vries TN, Hartmann A, Blaszyk H, Liao D, Soussi T, Kovach JS, Sommer S (1996) Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses. Hum Mut 7:202-213 (the p53/APC database is accessible through the Mayo Clinic/Foundation in Rochester, Minnesota, USA on world wide web at location http://www.mayo.edu/research/ papers).
5. Dobbie Z, Spycher M, Hurliman R, Ammann R, Ammann T, Roth J, Muller A, Muller HJ, Scott RJ (1994) Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene. Eur J Cancer 30A:1709-1713.
6. Fodde R, van der Luijt R, Wijnen J, Tops C, van der Klift H, van Leeuwen-Cornelisse I, Griffioen G, Vasen H, Meera Khan P (1992) Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. Genomics 13:1162-1168.