Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Prevalence of BRCA1 and BRCA2 mutations in ovarian cancer patients from Yunnan Province in southwest China.
Peng Y et al.
European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2025
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
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
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M et al.
Human Mutation, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Evans DG et al.
Journal of Medical Genetics, 2022
BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.
Fu X et al.
Frontiers in Cell and Developmental Biology, 2022
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V et al.
Jama Oncology, 2020
BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance.
Wang Y et al.
Nature Communications, 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
Shieldin complex promotes DNA end-joining and counters homologous recombination in BRCA1-null cells.
Dev H et al.
Nature Cell Biology, 2018
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
Copson ER et al.
The Lancet. Oncology, 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
DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer.
Flower KJ et al.
Epigenetics, 2015
cDNA analysis of the BRCA1 unclassified variant c.5194-12G>A.
Wong-Brown MW et al.
Clinical Genetics, 2013
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
Lindor NM et al.
Human Mutation, 2012
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.
Théry JC et al.
European Journal of Human Genetics : Ejhg, 2011
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Hondow HL et al.
Bmc Cancer, 2011
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.
Whiley PJ et al.
Human Mutation, 2011