Associated Papers
Genomic evolution of pancreatic cancer at single-cell resolution.
Zhang H et al.
Nature Genetics, 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
Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.
Iyevleva AG et al.
International Journal of Molecular Sciences, 2025
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Comprehensive cross-sectional study of CIN prevalence, HPV genotyping, genetic alterations, and microbiota as molecular biomarkers for early cervical cancer detection: A pilot clinical study among women in Russia.
Romanishin A et al.
International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 2025
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Precision screening facilitates clinical classification of BRCA2-PALB2 binding variants with benign and pathogenic functional effects.
Bose M et al.
The Journal of Clinical Investigation, 2025
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
Saturation genome editing-based clinical classification of BRCA2 variants.
Sahu S et al.
Nature, 2025
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
Significantly increased load of hereditary cancer-linked germline variants in infertile men.
Valkna A et al.
Human Reproduction Open, 2025
High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.
Shumilova S et al.
International Journal of Molecular Sciences, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination.
Alvaro-Aranda L et al.
Nucleic Acids Research, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.
Bilyalov A et al.
Cancers, 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
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 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
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
Urinary DNA as a Tool for Germline and Somatic Mutation Detection in Castration-Resistant Prostate Cancer Patients.
Januskevicius T et al.
Biomedicines, 2023
Uterine Cavity Lavage Mutation Analysis in Lithuanian Ovarian Cancer Patients.
Žilovič D et al.
Cancers, 2023
A spectrum of BRCA1 and BRCA2 germline deleterious variants in ovarian cancer in Russia.
Kechin A et al.
Breast Cancer Research and Treatment, 2023
Targeted Gene Panel Sequencing Unveiled New Pathogenic Mutations in Patients With Breast Cancer.
Kartti S et al.
Bioinformatics and Biology Insights, 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
Genetic Predisposition to Male Breast Cancer: A Case Series.
Apessos A et al.
Anticancer Research, 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
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022