Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.E185Q
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NBN

NM_002485.5:p.E185Q

Associated Papers

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a

The Challenges of Estimating Medullary Thyroid Cancer Risk in Variant Carriers-Reevaluating RET.

Felsky D et al.

Jama Network Open, 2025

Novel De Novo BRCA2 Variant in an Early-Onset Ovarian Cancer Reveals a Unique Tumor Evolution Pathway.

Miolo G et al.

International Journal of Molecular Sciences, 2025

Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

Kerle IA et al.

Npj Precision Oncology, 2025

39794422 (PubMed )
Supplement: 41698_2024_788_MOESM7_ESM.xlsx › patient_10_panel_small_variants

Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.

de Amorim IFG et al.

Plos One, 2025

40146757 (PubMed )
Supplement: pone.0315487.s005.xlsx › All_variants

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Case Report: Recognition and management of SMARCA4-deficient renal cell carcinoma.

Wang W et al.

Frontiers in Oncology, 2025

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

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

BER genes expression in oral and pre-oral cancer: Combinatorial approach to propose potential biomarker.

Nigam K et al.

Current Problems in Cancer, 2024

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

DNA Double-Strand Break Response and Repair Gene Polymorphisms May Influence Therapy Results and Prognosis in Head and Neck Cancer Patients.

Butkiewicz D et al.

Cancers, 2023

37894339 (PubMed )
Supplement: cancers-15-04972-s001.zip › cancers-2645185-supplementary.pdf

NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects.

Belhadj S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

NBN, RAD51 and XRCC3 Polymorphisms as Potential Predictive Biomarkers of Adjuvant Radiotherapy Toxicity in Early HER2-Positive Breast Cancer.

Goričar K et al.

Cancers, 2022

A lung adenocarcinoma patient with ROS1 fusion and NBN germline mutation achieves long progression-free survival from sintilimab combined with niraparib after failure of ROS1 inhibitors: a case report.

Xu F et al.

Annals of Translational Medicine, 2022

Polymorphisms in DNA Repair and Xenobiotic Biotransformation Enzyme Genes and Lung Cancer Risk in Coal Mine Workers.

Minina V et al.

Life (basel, Switzerland), 2022

Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation.

Uppugunduri CRS et al.

The Pharmacogenomics Journal, 2022

CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?

Koen K et al.

Hereditary Cancer in Clinical Practice, 2022

Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.

Chen D et al.

Frontiers in Oncology, 2022

36518309 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Gene polymorphisms and risk of head and neck squamous cell carcinoma: a systematic review.

Rajabi-Moghaddam M et al.

Reports of Practical Oncology and Radiotherapy : Journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology, 2022

A systematic genome-wide mapping of oncogenic mutation selection during CRISPR-Cas9 genome editing.

Sinha S et al.

Nature Communications, 2021

34764240 (PubMed )
Supplement: 41467_2021_26788_MOESM14_ESM.zip › Source_Data › Source_Data_Figure_1-6.xlsx › Figure_6F

Molecular pathogenesis of hereditary lung cancer: a literature review.

Rammal S et al.

Pharmacogenomics, 2021

New Approach for Detection of Normal Alternative Splicing Events and Aberrant Spliceogenic Transcripts with Long-Range PCR and Deep RNA Sequencing.

Dragoš VŠ et al.

Biology, 2021

34439939 (PubMed )
Supplement: biology-10-00706-s001.zip › New_protocol_LR-PCR_RNAseq-2021_IJMS-Supplementary_table_2.xlsx › control_genotypes

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?

Zuntini R et al.

International Journal of Molecular Sciences, 2021

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM15_ESM.xlsx › Supplementary_Data_12

Genetic Variation in the Vascular Endothelial Growth Factor (VEGFA) Gene at rs13207351 Is Associated with Overall Survival of Patients with Head and Neck Cancer.

Dimitrakopoulos FI et al.

Cancers, 2021

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Zhang J et al.

Frontiers in Oncology, 2021

35087742 (PubMed )
Supplement: Table_1.xlsx › Table3_mut_frequency_v3

Mutation Spectra of the MRN (MRE11, RAD50, NBS1/NBN) Break Sensor in Cancer Cells.

McPherson MT et al.

Cancers, 2020

DNA repair pathways as guardians of the genome: Therapeutic potential and possible prognostic role in hematologic neoplasms.

Rahimian E et al.

Dna Repair, 2020

Micronuclei Formation upon Radioiodine Therapy for Well-Differentiated Thyroid Cancer: The Influence of DNA Repair Genes Variants.

S Santos L et al.

Genes, 2020

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC34

A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.

Rahman S et al.

Cells, 2020

A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.

Velázquez C et al.

Journal of Translational Medicine, 2020

32522261 (PubMed )
Supplement: 12967_2020_2391_MOESM1_ESM.xlsx › Sup1

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Yadav S et al.

Oncogene, 2020

32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y et al.

Journal of the National Cancer Institute, 2020

31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_6

Association of Nijmegen Breakage Syndrome 1 Genotypes With Bladder Cancer Risk.

Chen M et al.

Anticancer Research, 2020

Identification of novel mutations of ovarian cancer-related genes from RNA-sequencing data for Japanese epithelial ovarian cancer patients.

Nagasawa S et al.

Endocrine Journal, 2020

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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."