Article
A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.
American journal of human genetics - 1 Jan 1996
Serova O, Montagna M, Torchard D, Narod S A, Tonin P, Sylla B, Lynch H T, Feunteun J, Lenoir G M
Abstract excerpt
We have analyzed 20 breast-ovarian cancer families, the majority of which show positive evidence of linkage to chromosome 17q12 for germ-line mutations in the BRCA1 gene. BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families, including 1 family...
Topics
- Alternative Splicing
- BRCA1 Protein
- Breast Neoplasms
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- Codon
- Exons
- Female
- Frameshift Mutation
- Genetic Counseling
- Genetic Linkage
- Genotype
- Humans
- Male
- Mutation
- Neoplasm Proteins