Associated Papers
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Comprehensive RAD51C ovarian cancer variant analysis uncouples homologous recombination and replicative functions.
Rein HL et al.
Nature Communications, 2025
Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes with RAD50, RAD51C/D, and BRIP1 Germline Mutations, Results of NGS-Reanalysis of BRCA/MMR-Negative Families.
Arranz-Ledo M et al.
Genes, 2025
Alterations in DNA Damage Repair Genes Before and After Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer.
Lemberger U et al.
European Urology Open Science, 2025
An Analysis of Genetic Polymorphisms in 76 Genes Related to the Development of Ovarian Tumors of Different Aggressiveness.
Szafron LA et al.
International Journal of Molecular Sciences, 2024
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
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
Functional analysis of germline RAD51C missense variants highlight the role of RAD51C in replication fork protection.
Kolinjivadi AM et al.
Human Molecular Genetics, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5'-nucleotidase deficiency.
Bogusławska DM et al.
Cellular & Molecular Biology Letters, 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
The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population.
Alenezi WM et al.
Cancers, 2022
A decade of RAD51C and RAD51D germline variants in cancer.
Boni J et al.
Human Mutation, 2022
Utility of exome sequencing in routine care for metastatic colorectal cancer.
D'Agay MG et al.
Molecular and Clinical Oncology, 2021
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
Velázquez C et al.
Cancers, 2020
Functional deficiency of DNA repair gene EXO5 results in androgen-induced genomic instability and prostate tumorigenesis.
Ali S et al.
Oncogene, 2020
Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
Jarhelle E et al.
Scientific Reports, 2019
POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.
Calvete O et al.
Journal of the American Heart Association, 2019
Correction: Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: Implications for Fanconi anemia and breast cancer susceptibility.
Somyajit K et al.
The Journal of Biological Chemistry, 2019
Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.
Arias-Salgado EG et al.
Orphanet Journal of Rare Diseases, 2019
Application of cell-free DNA for genomic tumor profiling: a feasibility study.
Ahlborn LB et al.
Oncotarget, 2019
Pancreatic cancer as a sentinel for hereditary cancer predisposition.
Young EL et al.
Bmc Cancer, 2018
Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).
Sánchez-Bermúdez AI et al.
European Journal of Medical Genetics, 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.
Gayarre J et al.
British Journal of Cancer, 2017
Neurogenetic analysis of childhood disintegrative disorder.
Gupta AR et al.
Molecular Autism, 2017
Efficiency of olaparib in colorectal cancer patients with an alteration of the homologous repair protein.
Ghiringhelli F et al.
World Journal of Gastroenterology, 2016
Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.
Jønson L et al.
Breast Cancer Research and Treatment, 2016
[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].
Macháčková E et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2016
Genetic testing for RAD51C mutations: in the clinic and community.
Sopik V et al.
Clinical Genetics, 2015
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
Song H et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer.
Chien J et al.
Nucleic Acids Research, 2015
Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase.
Somyajit K et al.
Carcinogenesis, 2015
RAD51C mutation screening in high-risk patients from Serbian hereditary breast/ovarian cancer families.
Krivokuca A et al.
Cancer Biomarkers : Section a of Disease Markers, 2015
Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers.
Gevensleben H et al.
Virchows Archiv : an International Journal of Pathology, 2014
RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.
Blanco A et al.
Breast Cancer Research and Treatment, 2014
The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience.
Mauer CB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
Leongamornlert D et al.
British Journal of Cancer, 2014
RAD51C--a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC).
Scheckenbach K et al.
Oral Oncology, 2014
Germline RAD51C mutations in ovarian cancer susceptibility.
Coulet F et al.
Clinical Genetics, 2013
Germline mutations in RAD51C in Jewish high cancer risk families.
Kushnir A et al.
Breast Cancer Research and Treatment, 2012
Mutation screening of RAD51C in high-risk breast and ovarian cancer families.
Lu W et al.
Familial Cancer, 2012