Associated Papers
Molecular Characterization of Adult-Type Lower-Grade Glioma (WHO Grade 1-3) with Targeted Next-Generation Sequencing: A Retrospective, Single-Institution Experience.
Pinamonti M et al.
Journal of Clinical Medicine, 2025
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis.
Failla P et al.
International Journal of Molecular Sciences, 2024
Rare Germline Variants in DNA Repair Genes Detected in BRCA-Negative Finnish Patients with Early-Onset Breast Cancer.
Kurkilahti V et al.
Cancers, 2024
Persistent TFIIH binding to non-excised DNA damage causes cell and developmental failure.
Muniesa-Vargas A et al.
Nature Communications, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans.
Alonso-Luna O et al.
Molecular Genetics & Genomic Medicine, 2024
MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis.
Shen L et al.
Current Protocols, 2024
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Garcia-Moreno H et al.
Brain : a Journal of Neurology, 2023
Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.
Zhunussova G et al.
Oncotarget, 2023
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
Deep intronic founder mutations identified in the ERCC4/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum.
Senju C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Clinical, pathological, and comprehensive molecular analysis of the uterine clear cell carcinoma: a retrospective national study from TMRG and GINECO network.
Nigon E et al.
Journal of Translational Medicine, 2023
Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.
Pipek O et al.
International Journal of Molecular Sciences, 2023
RosettaDDGPrediction for high-throughput mutational scans: From stability to binding.
Sora V et al.
Protein Science : a Publication of the Protein Society, 2023
Pembrolizumab activity in patients with Fanconi anemia repair pathway competent and deficient tumors.
Villalona-Calero MA et al.
Biomarker Research, 2022
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
Co-occurrence of thyroid and breast cancer is associated with an increased oncogenic SNP burden.
Bakos B et al.
Bmc Cancer, 2021
Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.
Tsutakawa SE et al.
Frontiers in Molecular Biosciences, 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
Diagnostic yield of a custom-designed multi-gene cancer panel in Irish patients with breast cancer.
McVeigh ÚM et al.
Irish Journal of Medical Science, 2020
Genomics of lethal prostate cancer at diagnosis and castration resistance.
Mateo J et al.
The Journal of Clinical Investigation, 2020
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Del Valle J et al.
Cancers, 2020
SLX4IP acts with SLX4 and XPF-ERCC1 to promote interstrand crosslink repair.
Zhang H et al.
Nucleic Acids Research, 2019
Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.
Tedaldi G et al.
Cancers, 2019
Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.
Leong TL et al.
Oncogene, 2019
Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.
Pugh J et al.
Jama Dermatology, 2019
Role for Nucleotide Excision Repair Gene Variants in Oxaliplatin-Induced Peripheral Neuropathy.
West H et al.
Jco Precision Oncology, 2018
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Sabatella M et al.
Nucleic Acids Research, 2018
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.
Maung KZY et al.
Blood Cancer Journal, 2018
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Mori T et al.
Human Mutation, 2018
Multiple primary tumors in a family with Li-Fraumeni syndrome with a TP53 germline mutation identified by next-generation sequencing.
Zampiga V et al.
The International Journal of Biological Markers, 2016
Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair.
Villalona-Calero MA et al.
Journal of the National Cancer Institute, 2016
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Fassihi H et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations.
Hashimoto K et al.
Dna Repair, 2015
Targeted genomic analysis of Müllerian adenosarcoma.
Howitt BE et al.
The Journal of Pathology, 2015
Systems biology approach for mutational and site-specific structural investigation of DNA repair genes for xeroderma pigmentosum.
Sehgal M et al.
Gene, 2014
[Surgical prevention of breast carcinoma in patients with hereditary risk].
Dražan L et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
Ahmad A et al.
Plos Genetics, 2010
Inherited predisposition of lung cancer: a hierarchical modeling approach to DNA repair and cell cycle control pathways.
Hung RJ et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007
Nucleotide excision repair pathway review I: implications in ovarian cancer and platinum sensitivity.
Saldivar JS et al.
Gynecologic Oncology, 2007
Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer.
Moreno V et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2006
Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
Savas S et al.
Bmc Cancer, 2005