Article
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
Human mutation - 1 Nov 2021
Ruiz de Garibay Gorka, Fernandez-Garcia Ignacio, Mazoyer Sylvie, Leme de Calais Flavia, Ameri Pietro, Vijayakumar Sangeetha, Martinez-Ruiz Haydeliz, Damiola Francesca, Barjhoux Laure, Thomassen Mads, Andersen Lars V B, Herranz Carmen, Mateo Francesca, Palomero Luis, Espín Roderic, Gómez Antonio, García Nadia, Jimenez Daniel, Bonifaci Núria, Extremera Ana I, Castaño Julio, Raya Angel, Eyras Eduardo, Puente Xose S, Brunet Joan, Lázaro Conxi, Radice Paolo, Barnes Daniel R, Antoniou Antonis C, Spurdle Amanda B, de la Hoya Miguel, Baralle Diana, Barcellos-Hoff Mary Helen, Pujana Miquel A
Abstract excerpt
Germline pathogenic variants in BRCA1 confer a high risk of developing breast and ovarian cancer. The BRCA1 exon 11 (formally exon 10) is one of the largest exons and codes for the nuclear localization signals of the corresponding gene product. This exon can be partially or entirely skipped during pre-mRNA splicing, leading to three major in-frame isoforms that are detectable in most cell types and tissue, and in...
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