Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1995-12

AUTHORS

S A Gayther, W Warren, S Mazoyer, P A Russell, P A Harrington, M Chiano, S Seal, R Hamoudi, E J van Rensburg, A M Dunning, R Love, G Evans, D Easton, D Clayton, M R Stratton, B A Ponder

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. More... »

PAGES

428-433

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1295-428

DOI

http://dx.doi.org/10.1038/ng1295-428

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1037208461

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7493024


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