Associated Papers
Different association of gBRCA1 and gBRCA2 variants with HER2-low status in invasive breast cancer: findings from a Ukrainian study.
Livshun S et al.
Scientific Reports, 2025
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Nesic K et al.
Molecular Cancer, 2024
Small-scale mutations are infrequent as mechanisms of resistance in post-PARP inhibitor tumour samples in high grade serous ovarian cancer.
Burdett NL et al.
Scientific Reports, 2023
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.
Nesic K et al.
Medrxiv : the Preprint Server for Health Sciences, 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
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.
Solano AR et al.
Cancers, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Fraile-Bethencourt E et al.
The Journal of Pathology, 2019
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R et al.
Nucleic Acids Research, 2018
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R et al.
Nucleic Acids Research, 2018
Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.
Baert A et al.
Human Mutation, 2018
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Moles-Fernández A et al.
Frontiers in Genetics, 2018
The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.
Kang E et al.
Breast Cancer Research and Treatment, 2015
BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer.
El Saghir NS et al.
The Oncologist, 2015
Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools.
Grodecká L et al.
Plos One, 2014
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
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
Gaildrat P et al.
Journal of Medical Genetics, 2012