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- PMID: 7493024
- UKPMCID: 7493024
- DOI: 10.1038/ng1295-428
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Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation.
Gayther, S A; Warren, W; Mazoyer, S; Russell, P A; Harrington, P A; Chiano, M; Seal, S; Hamoudi, R; van Rensburg, E J; Dunning, A M; Love, R; Evans, G; Easton, D; Clayton, D; Stratton, M R; Ponder, B A
Nature genetics. 1995;11(4):428-33.
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Full-text held externally
- PMID: 7493024
- UKPMCID: 7493024
- DOI: 10.1038/ng1295-428
Abstract
Mutations in the BRCA1 gene, discovered in 1994, are associated with an 80-90% lifetime risk of breast cancer. We have analysed 60 families with a history of breast and/or ovarian cancer for germline mutations in BRCA1. Twenty-two different mutations were detected in 32 families (53%), of which 14 are previously unreported. We observed a significant correlation between the location of the mutation in the gene and the ratio of breast to ovarian cancer incidence within each family. Our data suggest a transition in risk such that mutations in the 3' third of the gene are associated with a lower proportion of ovarian cancer. Haplotype analysis supports previous data which suggest some BRCA1 mutation carriers have common ancestors; however, we have found at least two examples where recurrent mutations appear to have arisen independently.