title: Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13.
abstract: A small proportion of breast cancer is attributable to the inheritance of dominant, high penetrance susceptibility genes. One of these genes, BRCA2, has recently been localised by genetic linkage analysis to chromosome 13q12-13. This is a region known to exhibit loss of heterozygosity in 20-40% sporadic breast cancers. In this study, we have examined cancers from a family showing strong evidence of linkage to BRCA2. LOH was seen in seven out of eight informative cancers. In all cases the allele lost was the wild type allele that does not segregate with the disease in the family. The data suggest that both alleles of BRCA2 are inactivated in cancers, the pattern expected of a recessive oncogene or tumour suppressor gene.
authors.affiliation: Section of Molecular Carcinogenesis, Royal Marsden Hospital, Sutton, Surrey, UK.
authors.forename: N
authors.initials: N
authors.lastname: Collins
authors.forename: R
authors.initials: R
authors.lastname: McManus
authors.forename: R
authors.initials: R
authors.lastname: Wooster
authors.forename: J
authors.initials: J
authors.lastname: Mangion
authors.forename: S
authors.initials: S
authors.lastname: Seal
authors.forename: S R
authors.initials: SR
authors.lastname: Lakhani
authors.forename: W
authors.initials: W
authors.lastname: Ormiston
authors.forename: P A
authors.initials: PA
authors.lastname: Daly
authors.forename: D
authors.initials: D
authors.lastname: Ford
authors.forename: D F
authors.initials: DF
authors.lastname: Easton
mesh_terms: D000483:Alleles; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000235:genetics*; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005260:Female; D016147:Genes, Tumor Suppressor; D008040:Genetic Linkage; D006801:Humans; D009363:Neoplasm Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors