Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.K219_I221delFs
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NBN

NM_002485.5:p.K219_I221delFs

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

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › PVs

Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.

Krückel A et al.

Archives of Gynecology and Obstetrics, 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

41727503 (PubMed )
Supplement: Table1.xlsx › Table_S4

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

41465396 (PubMed )
Supplement: ijms-26-11968-s001.zip › File_S1.xlsx › Sheet1

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

41465280 (PubMed )
Supplement: ijms-26-11851-s001.zip › Supplementary_Table_1.xlsx › Supplementary_table_S1

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM13_ESM.xlsx › germline_snv_indel

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 Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

Limited association between HRR gene alterations and HRD in molecular tumor board cancer samples: Who should be tested for HRD?

Schubart C et al.

International Journal of Cancer, 2025

40278800 (PubMed )
Supplement: IJC-157-964-s002.xlsx › Tabelle1

17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?

William D et al.

Esmo Gastrointestinal Oncology, 2025

41647972 (PubMed )
Supplement: mmc1.xlsx › Suppl._Table_2

Association analysis of germline mutations in CHEK2, PALB2, NBN and RECQL with the risk of ductal carcinoma in situ in Polish women.

Feszak S et al.

Hereditary Cancer in Clinical Practice, 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

39974082 (PubMed )
Supplement: media-12.xlsx › TableS11A-germline_snv_indel

A Comprehensive Review of Somatic and Germline Biomarkers Associated with Childhood B-Cell Precursor Acute Lymphoblastic Leukemia: From Biological Significance to Precision Medicine Opportunities.

Martínez Anaya D et al.

Biomedicines, 2025

Geographic and age variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Nature, 2025

40267983 (PubMed )
Supplement: 41586_2025_9025_MOESM3_ESM.xlsx › Supplementary_Table_55

Contribution of MRE11, RAD50, and NBS1 Genotypes to Bladder Cancer Susceptibility.

Liao CH et al.

Cancer Genomics & Proteomics, 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

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › SUPPLEMENTARY_TABLE_1.xlsx › Comparison_FFPE

Genetics in a Danish Common Variable Immunodeficiency Cohort.

Drabe CH et al.

Journal of Clinical Immunology, 2025

Moderate-Low Risk Breast Cancer Gene Expression in a Romanian Population.

Goidescu IG et al.

International Journal of Molecular Sciences, 2025

Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.

Saoud C et al.

Npj Precision Oncology, 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

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

Comprehensive genomic and transcriptomic analysis enables molecularly guided therapy options in peritoneal and pleural mesothelioma.

Möhrmann L et al.

Esmo Open, 2025

40174508 (PubMed )
Supplement: mmc2.xlsx › Suppl._Data_5

Geographic and age-related variations in mutational processes in colorectal cancer.

Díaz-Gay M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40034755 (PubMed )
Supplement: media-5.xlsx › Supplementary_Note_Table_28

Clinical integration of germline findings from a tumor testing precision medicine program.

Sanabria-Salas MC et al.

Bmc Cancer, 2025

39885482 (PubMed )
Supplement: 12885_2025_13487_MOESM1_ESM.pdf

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc1.pdf

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

Asymptomatic Bloom syndrome diagnosed by chance in a patient with breast cancer.

Suspitsin E et al.

Familial Cancer, 2024

PARP Inhibitors in Pancreatic Cancer with Homologous Recombination Repair Gene Mutations: A Single-Institution Experience.

Miao R et al.

Cancers, 2024

39456541 (PubMed )
Supplement: cancers-16-03447-s001.zip › cancers-3211805-supplementary.pdf

Understanding genetic variations associated with familial breast cancer.

Pal M et al.

World Journal of Surgical Oncology, 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

39456660 (PubMed )
Supplement: ijms-25-10876-s001.zip › Supplement-variants.xlsx › 44.genes.NON-SNP_all_variants

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."