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
RAD51C-XRCC3 complex regulates FANCM-mediated R-loop resolution to safeguard genome integrity.
Sahoo S et al.
Science Advances, 2026
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Cryo-electron microscopy visualization of RAD51 filament assembly and end-capping by XRCC3-RAD51C-RAD51D-XRCC2.
Greenhough LA et al.
Science (new York, N.y.), 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Germline Sequencing of Familial and Sporadic Early-Onset Colorectal Cancer: A Novel Pattern of Genes.
Vande Perre P et al.
International Journal of Molecular Sciences, 2025
Germline Testing in Breast Cancer: A Single-Center Analysis Comparing Strengths and Challenges of Different Approaches.
Marabelli M et al.
Cancers, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Investigating the effects of the ARG258HIS mutation on RAD51C in inherited Fanconi Anemia and cancer disease.
Seifeldin S et al.
Journal of Biomolecular Structure & Dynamics, 2024
High-resolution functional mapping of RAD51C by saturation genome editing.
Olvera-León R et al.
Cell, 2024
Anthracycline-related cardiotoxicity in patients with breast cancer harboring mutational signature of homologous recombination deficiency (HRD).
Incorvaia L et al.
Esmo Open, 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
Hot on RAD51C: structure and functions of RAD51C-XRCC3.
Szakal B et al.
Molecular Oncology, 2023
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.
Hu C et al.
Cancer Research, 2023
RAD51C-XRCC3 structure and cancer patient mutations define DNA replication roles.
Longo MA et al.
Nature Communications, 2023
Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor.
Greenhough LA et al.
Nature, 2023
Structural insights into BCDX2 complex function in homologous recombination.
Rawal Y et al.
Nature, 2023
Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.
Bouras A et al.
Cancers, 2023
SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.
Zemet R et al.
Human Genetics, 2023
Functional analysis of germline RAD51C missense variants highlight the role of RAD51C in replication fork protection.
Kolinjivadi AM et al.
Human Molecular Genetics, 2023
Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress.
Tomaszowski KH et al.
Nature Communications, 2023
SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia.
Zemet R et al.
Research Square, 2023
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Villani A et al.
Nature Cancer, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
RAD51 paralogs: Expanding roles in replication stress responses and repair.
Bhattacharya D et al.
Current Opinion in Pharmacology, 2022
Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.
Prakash R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C.
Sanoguera-Miralles L et al.
Cancers, 2022
Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer.
Lim BWX et al.
Npj Breast Cancer, 2022
MRE11-dependent instability in mitochondrial DNA fork protection activates a cGAS immune signaling pathway.
Luzwick JW et al.
Science Advances, 2021
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 2021
Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.
Bono M et al.
Esmo Open, 2021
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur F et al.
Cancers, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P et al.
Haematologica, 2021
Rare germline genetic variants and risk of aggressive prostate cancer.
Nguyen-Dumont T et al.
International Journal of Cancer, 2020
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Subramanian DN et al.
Nature Communications, 2020