Article
Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation.
Nature genetics - 1 Dec 1995
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
Abstract excerpt
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 1...
Topics
- BRCA1 Protein
- Breast Neoplasms
- Breast Neoplasms, Male
- Female
- Genetic Markers
- Genetic Testing
- Genotype
- Germ-Line Mutation
- Haplotypes
- Humans
- Male
- Neoplasm Proteins
- Ovarian Neoplasms
- Phenotype