Identification of the breast cancer susceptibility gene BRCA2.
In Western Europe and the United States approximately 1 in 12 women develop breast cancer. A small proportion of breast cancer cases, in particular those arising at a young age, are attributable to a highly penetrant, autosomal dominant predisposition to the disease. The breast cancer susceptibility gene, BRCA2, was recently localized to chromosome 13q12-q13. Here we report the identification of a gene in which we have detected six different germline mutations in breast cancer families that are likely to be due to BRCA2. Each mutation causes serious disruption to the open reading frame of the transcriptional unit. The results indicate that this is the BRCA2 gene.
Section of Molecular Carcinogenesis, Haddow Laboratories, Sutton Surrey, UK.
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R
Wooster
G
G
Bignell
J
J
Lancaster
S
S
Swift
S
S
Seal
J
J
Mangion
N
N
Collins
S
S
Gregory
C
C
Gumbs
G
G
Micklem
D000595:Amino Acid Sequence; D024682:BRCA2 Protein; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000235:genetics; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002882:Chromosomes, Human, Pair 13; D004273:DNA, Neoplasm; D005260:Female; D016368:Frameshift Mutation; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics*; D016366:Open Reading Frames; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics*
D024682:BRCA2 Protein; D004273:DNA, Neoplasm; D009363:Neoplasm Proteins; D014157:Transcription Factors