Identification of a new complex rearrangement affecting exon 20 of BRCA1

• DOI: 10.1007/s10549-011-1673-1
• Publication Date: 2011-07-14T08:30:10Z
• Authors: Jesús del Valle; Olga Campos; Angela Velasco; Esther Darder; Mireia Menéndez; Lídia Feliubadaló; Eva Tornero; Ignacio Blanco; Ángel Izquierdo; Joan Brunet; Gabriel Capellá; Conxi Lázaro
• Keywords: Adult; Ovarian Neoplasms; Base Sequence; RNA Splicing; Molecular Sequence Data; Genes, BRCA1; Exons; Pedigree; 03 medical and health sciences; 0302 clinical medicine; Gene Order; Humans; Female; Sequence Alignment; Sequence Deletion

In this study, we present a novel complex rearrangement in the BRCA1 gene. The genomic rearrangement was identified using one of the two commercially available MLPA BRCA1 kits but was not confirmed with the other. In this report, we present the full characterization at the DNA and RNA levels of a new partial deletion of exon 20 of BRCA1. This is a complex deletion with four breakpoints which promotes aberrant splicing with partial deletion of exon 20 plus the insertion of a cryptic exon corresponding to a fragment of intron 20. The aberrant splicing generates an abnormal transcript with a frameshift that will result in a truncated BRCA1 protein.