Associated Papers
Clinicopathological characteristics and eligibility for adjuvant olaparib of germline BRCA1/2 mutation carriers with HER2-negative early breast cancer.
Morganti S et al.
Npj Breast Cancer, 2024
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
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 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
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
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Lebo MS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
Schenkel LC et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
Fackenthal JD et al.
Journal of Medical Genetics, 2016
Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup.
Miele E et al.
Biomarker Research, 2015
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.
Degrolard-Courcet E et al.
European Journal of Human Genetics : Ejhg, 2014
Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.
Acedo A et al.
Breast Cancer Research : Bcr, 2012
The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.
Myers K et al.
Pediatric Blood & Cancer, 2012
Fanconi anemia and biallelic BRCA2 mutation diagnosed in a young child with an embryonal CNS tumor.
Dewire MD et al.
Pediatric Blood & Cancer, 2009