Article
New mechanism of BRCA-1 mutation by deletion/insertion at the same nucleotide position in three unrelated French breast/ovarian cancer families.
Human genetics - 1 Sept 1998
Presneau N, Laplace-Marieze V, Sylvain V, Lortholary A, Hardouin A, Bernard-Gallon D, Bignon Y J
Abstract excerpt
A novel complex mutation consisting of a small deletion/insertion (3958del5ins4) was found in the breast cancer-1 gene (BRCA-1) in three unrelated French breast and/or ovarian cancer families. These mutations occurred at the same nucleotide position of the 3' end of exon 11. The wild-type sequenc...
Topics
- BRCA1 Protein
- Breast Neoplasms
- Codon, Terminator
- Female
- France
- Genes, BRCA1
- Genetic Markers
- Haplotypes
- Humans
- Middle Aged
- Mutation
- Ovarian Neoplasms
- Polymerase Chain Reaction
- Sequence Deletion