Associated Papers
KIF2C condensation concentrates PLK1 and phosphorylated BRCA2 on kinetochore microtubules in mitosis.
Skobelkina A et al.
Nucleic Acids Research, 2025
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Fortuno C et al.
European Journal of Human Genetics : Ejhg, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil.
Mazzonetto P et al.
Breast Cancer Research and Treatment, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Missense Variants of Uncertain Significance: A Powerful Genetic Tool for Function Discovery with Clinical Implications.
Sessa G et al.
Cancers, 2021
Intrinsic Disorder and Phosphorylation in BRCA2 Facilitate Tight Regulation of Multiple Conserved Binding Events.
Julien M et al.
Biomolecules, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
BRCA2 promotes DNA-RNA hybrid resolution by DDX5 helicase at DNA breaks to facilitate their repair‡.
Sessa G et al.
The Embo Journal, 2021
The phospho-dependent role of BRCA2 on the maintenance of chromosome integrity.
Ehlén Å et al.
Cell Cycle (georgetown, Tex.), 2021
A new interaction between BRCA2 and DDX5 promotes the repair of DNA breaks at transcribed chromatin.
Gómez-González B et al.
Molecular & Cellular Oncology, 2021
Proper chromosome alignment depends on BRCA2 phosphorylation by PLK1.
Ehlén Å et al.
Nature Communications, 2020
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.
Di Giacomo D et al.
Human Mutation, 2013
Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.
Tram E et al.
Plos One, 2013
BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis.
Mondal G et al.
Developmental Cell, 2012