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BONIFACI , Núria

Last name: BONIFACI

First name: Núria

2021 (v1)

Publication

Metadata-only

Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants

Ruiz de Garibay, Gorka Fernandez-Garcia, Ignacio Mazoyer, Sylvie

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...

Uploaded on: February 6, 2024