Associated Papers
Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells.
Lima BA et al.
Life Science Alliance, 2025
A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations.
Radulovic I et al.
Human Molecular Genetics, 2023
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.
Tubeuf H et al.
Cancer Research, 2020
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
Brandão RD et al.
International Journal of Cancer, 2019
Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants.
Fraile-Bethencourt E et al.
Breast Cancer Research and Treatment, 2018
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
van der Hout AH et al.
Human Mutation, 2006
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