title: Identification of a new complex rearrangement affecting exon 20 of BRCA1.
abstract: 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.
authors.affiliation: Hereditary Cancer Program, Institut Català d'Oncologia, Hospital Duran i Reynals - Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona and Hospital Josep Trueta, IDIBGI, Girona (JB, ED, AI and AV), Spain.
authors.forename: Jesús
authors.initials: J
authors.lastname: Del Valle
authors.forename: Olga
authors.initials: O
authors.lastname: Campos
authors.forename: Angela
authors.initials: A
authors.lastname: Velasco
authors.forename: Esther
authors.initials: E
authors.lastname: Darder
authors.forename: Mireia
authors.initials: M
authors.lastname: Menéndez
authors.forename: Lídia
authors.initials: L
authors.lastname: Feliubadaló
authors.forename: Eva
authors.initials: E
authors.lastname: Tornero
authors.forename: Ignacio
authors.initials: I
authors.lastname: Blanco
authors.forename: Angel
authors.initials: A
authors.lastname: Izquierdo
authors.forename: Joan
authors.initials: J
authors.lastname: Brunet
authors.forename: Gabriel
authors.initials: G
authors.lastname: Capellá
authors.forename: Conxi
authors.initials: C
authors.lastname: Lázaro
mesh_terms: D000328:Adult; D001483:Base Sequence; D005091:Exons; D005260:Female; D023061:Gene Order; D019398:Genes, BRCA1; D006801:Humans; D008969:Molecular Sequence Data; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D012326:RNA Splicing; D016415:Sequence Alignment; D017384:Sequence Deletion