Article
An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.
BMC medical genetics - 22 Sept 2011
Muller Danièle, Rouleau Etienne, Schultz Inès, Caputo Sandrine, Lefol Cédrick, Bièche Ivan, Caron Olivier, Noguès Catherine, Limacher Jean Marc, Demange Liliane, Lidereau Rosette, Fricker Jean Pierre, Abecassis Joseph
Abstract excerpt
BACKGROUND: Germ-line mutations in the BRCA1 and BRCA2 genes are major contributors to hereditary breast/ovarian cancer. Large rearrangements are less frequent in the BRCA2 gene than in BRCA1. We report, here, the first total deletion of exon 3 in the BRCA2 gene that was detected during screening of 2058 index cases from breast/ovarian cancer families for BRCA2 large rearrangements. Deletion of exon 3, which is...
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