Gorka Ruiz de Garibay, Ignacio Fernandez-Garcia, Sylvie Mazoyer, Flavia Leme de Calais, Pietro Ameri, Sangeetha Vijayakumar, Haydeliz Martinez-Ruiz, Francesca Damiola, Laure Barjhoux, Mads Thomassen, Lars V B Andersen, Carmen Herranz, Francesca Mateo, Luis Palomero, Roderic Espín, Antonio Gómez, Nadia García, Daniel Jimenez, Núria Bonifaci, Ana I Extremera, Julio Castaño, Angel Raya, Eduardo Eyras, Xose S Puente, Joan Brunet, Conxi Lázaro, Paolo Radice, Daniel R Barnes, Antonis C Antoniou, Amanda B Spurdle, Miguel de la Hoya, Diana Baralle, Mary Helen Barcellos-Hoff, Miquel A Pujana
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 normal and cancer settings. However, it is unclear whether the splicing imbalance of this exon is associated with cancer risk...
August 22, 2021: Human Mutation