Associated Papers
Risk of ovarian cancer in women with a pathogenic or likely pathogenic variant in NBN: a systematic review and meta-analysis.
Ganesan S et al.
American Journal of Obstetrics and Gynecology, 2026
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Marakhonov A et al.
Frontiers in Immunology, 2026
Prevalence and Clinical Associations of Germline DDR Variants in Prostate Cancer: Real-World Evidence from a 122-Patient Turkish Cohort.
Akay S et al.
Genes, 2025
Germline variants observed in pediatric cancer patients related to hereditary breast and ovarian cancer in adults.
Daugs K et al.
International Journal of Cancer, 2025
Integrative sWGS: A New Paradigm for HRD Detection in Ovarian Cancer.
Jinga DC et al.
International Journal of Molecular Sciences, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Attenuated Form of Nijmegen Breakage Syndrome: Case Report of the Oldest Patient.
Gangal SK et al.
American Journal of Medical Genetics. Part A, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Genetics in a Danish Common Variable Immunodeficiency Cohort.
Drabe CH et al.
Journal of Clinical Immunology, 2025
Overt and covert genetic causes of pediatric acute lymphoblastic leukemia.
Stoltze U et al.
Leukemia, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Comprehensive genomic and transcriptomic analysis enables molecularly guided therapy options in peritoneal and pleural mesothelioma.
Möhrmann L et al.
Esmo Open, 2025
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Neuroblastoma Occurring in Nijmegen Breakage Syndrome.
Djurisic M et al.
Journal of Pediatric Hematology/oncology, 2025
Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.
Rozevska M et al.
Frontiers in Immunology, 2025
Genetic counseling for hereditary cancer syndromes: a 5-year experience from a single center in Bulgaria.
Hachmeriyan M et al.
Oncology Reviews, 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
Germline pathogenic variants in the MRE11, RAD50, and NBN (MRN) genes in cancer predisposition: A systematic review and meta-analysis.
Stastna B et al.
International Journal of Cancer, 2024
PARP Inhibitors in Pancreatic Cancer with Homologous Recombination Repair Gene Mutations: A Single-Institution Experience.
Miao R et al.
Cancers, 2024
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
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC.
Nitschke NJ et al.
Clinical Genetics, 2024
Identification of a putative molecular subtype of adult-type diffuse astrocytoma with recurrent MAPK pathway alterations.
Sievers P et al.
Acta Neuropathologica, 2024
Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.
Kwong A et al.
Cancers, 2024
Germline variants in patients developing second malignant neoplasms after therapy for pediatric acute lymphoblastic leukemia-a case-control study.
Junk SV et al.
Leukemia, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.
Agaoglu NB et al.
Cancer Medicine, 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 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
Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk-Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland.
Kałużewski T et al.
International Journal of Molecular Sciences, 2023
Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients.
Henkel J et al.
European Journal of Human Genetics : Ejhg, 2023
Germline Genetic NBN Variation and Predisposition to B-cell Acute Lymphoblastic Leukemia in Children.
Escherich C et al.
Research Square, 2023
Hereditary Conditions Associated with Elevated Cancer Risk in Childhood.
Suspitsin EN et al.
Biochemistry. Biokhimiia, 2023
Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.
Cătană A et al.
Biomedicines, 2023
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023