Article
Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations.
Human mutation - 1 Nov 2003
Martínez-Ferrandis J I, Vega A, Chirivella I, Marín-García P, Insa A, Lluch A, Carracedo A, Chaves F J, García-Conde J, Cervantes A, Armengod M-E
Abstract excerpt
In Spain, the contribution of BRCA mutations to the population incidence of early-onset breast cancer was unknown. We carried out a mutational analysis of the BRCA1 and BRCA2 genes in 124 Spanish women diagnosed with breast cancer before the age 41 and who were not selected for a family history of this disease. The genetic study was performed by PCR-SSCP analysis and DNA sequencing. We identified 6 pathogenic...
Topics
- Adult
- Breast Neoplasms
- DNA Mutational Analysis
- Female
- Genes, BRCA1
- Genes, BRCA2
- Germ-Line Mutation
- Humans
- Mediterranean Region
- Mutation
- Spain