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
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
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits.
Witt D et al.
Breast (edinburgh, Scotland), 2025
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Saturation genome editing-based clinical classification of BRCA2 variants.
Sahu S et al.
Nature, 2025
The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.
Alvaro-Aranda L et al.
Nucleic Acids Research, 2024
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.
Andaluz S et al.
Bmc Genomics, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.
Chen C et al.
Cell Discovery, 2023
In silico and structure-based assessment to classify VUS identified in the α-helical domain of BRCA2.
Khan MA et al.
Journal of Biomolecular Structure & Dynamics, 2023
The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.
Yamazawa K et al.
Cancer Science, 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
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
MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.
Karalidou V et al.
Biomolecules, 2022
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.
Qorri E et al.
International Journal of Molecular Sciences, 2022
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Iversen ES et al.
Npj Genomic Medicine, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
Liu J et al.
Genome Medicine, 2022
Cancer-causing BRCA2 missense mutations disrupt an intracellular protein assembly mechanism to disable genome maintenance.
Lee M et al.
Nucleic Acids Research, 2021
The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study.
Toss A et al.
Diagnostics (basel, Switzerland), 2021
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
iVar, an Interpretation-Oriented Tool to Manage the Update and Revision of Variant Annotation and Classification.
Castellano S et al.
Genes, 2021
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Figlioli G et al.
Cancers, 2021
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.
Biswas K et al.
Npj Genomic Medicine, 2020
Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2.
Barbosa A et al.
Cancers, 2020
High-throughput functional evaluation of BRCA2 variants of unknown significance.
Ikegami M et al.
Nature Communications, 2020
Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects.
Peixoto A et al.
Frontiers in Oncology, 2020