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 sequence, CTCAG, was deleted and replaced by AGGC in the three families. The consequence is the generation of a stop codon,...
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