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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation
Nature Genetics, Volume 11, No. 4, Year 1995
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Description
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. © 1995 Nature Publishing Group.
Authors & Co-Authors
Gayther, Simon A.
United Kingdom, Cambridge
Addenbrooke's Hospital
Warren, W.
United Kingdom, London
The Institute of Cancer Research
Mazoyer, Sylvie
United Kingdom, Cambridge
Addenbrooke's Hospital
Russell, Paul A.
United Kingdom, Cambridge
Addenbrooke's Hospital
Harrington, Patricia A.
United Kingdom, Cambridge
Addenbrooke's Hospital
Chiano, Mathias N.
United Kingdom, Cambridge
Addenbrooke's Hospital
United Kingdom, Cambridge
Mrc Biostatistics Unit
Seal, Sheila
United Kingdom, London
The Institute of Cancer Research
Hamoudi, Rifat Akram
United Kingdom, London
The Institute of Cancer Research
van Rensburg, Elizabeth J.
United Kingdom, Cambridge
Addenbrooke's Hospital
South Africa, Pretoria
University of Pretoria
Dunning, Alison M.
United Kingdom, Cambridge
Addenbrooke's Hospital
Love, Richard Reed
Unknown Affiliation
Evans, D. Gareth R.
France, Charleville-mezieres
Hôpital Manchester - Centre Hospitalier de Charleville-mézières
d'Adamo, Adamo P.
United Kingdom, Cambridge
Cambridge Institute of Public Health
Clayton, David F.
United Kingdom, Cambridge
Mrc Biostatistics Unit
Michael R. Stratton, Michael R.
United Kingdom, London
The Institute of Cancer Research
Ponder, Bruce A.J.
United Kingdom, Cambridge
Addenbrooke's Hospital
Statistics
Citations: 488
Authors: 16
Affiliations: 6
Identifiers
Doi:
10.1038/ng1295-428
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Cancer
Genetics And Genomics
Study Design
Cohort Study