Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer.
Karppinen
S-M
SM
Department of Clinical Genetics, Oulu University Hospital/University of Oulu, PO Box 24, FIN-90029 OYS, Finland.
Heikkinen
K
K
Rapakko
K
K
Winqvist
R
R
D000483:Alleles; D000595:Amino Acid Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005387:Finland; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics; D010375:Pedigree; D012694:Serine / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000737:chemistry / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000737:chemistry / Q000235:genetics*
D025521:Tumor Suppressor Proteins; D012694:Serine; C102449:BARD1 protein, human; D044767:Ubiquitin-Protein Ligases; D003545:Cysteine