Article
Functional characterization of splice variants in hereditary breast and ovarian cancer susceptibility genes.
Familial cancer - 18 Dec 2025
Rosado-Jiménez Laura, Mestre-Terkemani Younes, García-Aliaga Ángeles, Sarabia-Meseguer María D, Marín-Vera Miguel, Macías-Cerrolaza José A, Sánchez-Henarejos Pilar, García-Hernández María R, Zafra-Poves Marta, Álvarez-Abril Beatriz C, López-Sánchez Carmen B, Moya-Martínez María P, Pascual-Gilabert Patricia, Cerón-Moreno Ana M, Castillo-Guardiola Verónica, Antón-Martínez David, Ayala-de la Peña Francisco, Alonso-Romero José L, Noguera-Velasco José A, Ruiz-Espejo Francisco
Abstract excerpt
Hereditary breast and ovarian cancer (HBOC) is an autosomal dominant cancer predisposition syndrome primarily associated with germline mutations in BRCA1 and BRCA2. Nevertheless, the implementation of multigene panels using Next Generation Sequencing (NGS) has expanded the mutational spectrum for this hereditary syndrome. As a result, the number of variants of uncertain clinical significance (VUS) has increased,...
Topics
- Humans
- Female
- Genetic Predisposition to Disease
- Breast Neoplasms
- Hereditary Breast and Ovarian Cancer Syndrome
- RNA Splicing
- Checkpoint Kinase 2