Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.K219fs
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NBN

NM_002485.5:p.K219fs

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

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

40857049 (PubMed )
Supplement: IJC-157-2447-s002.pdf

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

Comprehensive molecular landscape of anal squamous cell carcinoma: analysis of tissue and liquid biopsies from 1844 patients.

Smolenschi C et al.

Npj Precision Oncology, 2025

41286505 (PubMed )
Supplement: 41698_2025_1181_MOESM1_ESM.pdf

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

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

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

Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.

Marshall CH et al.

Cancers, 2025

40361359 (PubMed )
Supplement: cancers-17-01432-s001.zip › cancers-3524691-supplementary.xlsx › Sheet1

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

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

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

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

Yanus GA et al.

International Journal of Molecular Sciences, 2024

Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.

Kwong A et al.

Cancers, 2024

Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome.

Cakmak Genc G et al.

Birth Defects Research, 2024

Identification of Genes with Rare Loss of Function Variants Associated with Aggressive Prostate Cancer and Survival.

Saunders EJ et al.

European Urology Oncology, 2024

Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.

Wallen ZD et al.

Frontiers in Oncology, 2024

39664186 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

Cytomorphologic, immunophenotypical and molecular features of pancreatic acinar cell carcinoma.

Sun T et al.

Diagnostic Cytopathology, 2023

Long-molecule scars of backup DNA repair in BRCA1- and BRCA2-deficient cancers.

Setton J et al.

Nature, 2023

37587346 (PubMed )
Supplement: 41586_2023_6461_MOESM10_ESM.xlsx › EDF4B_ONCOTABLE

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

The Effect of Inactivating Heterozygous Mutation in NBS1 Gene on DNA Damage and Repair Markers and Apoptosis Markers in Mice.

Yurova MN et al.

Bulletin of Experimental Biology and Medicine, 2023

Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.

Cătană A et al.

Biomedicines, 2023

Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex.

Otahalova B et al.

International Journal of Molecular Sciences, 2023

Urinary DNA as a Tool for Germline and Somatic Mutation Detection in Castration-Resistant Prostate Cancer Patients.

Januskevicius T et al.

Biomedicines, 2023

Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.

Saygin C et al.

Blood Advances, 2023

36001442 (PubMed )
Supplement: BLOODA_ADV-2022-008172-mmc1.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

Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma.

Horackova K et al.

Cancers, 2022

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

Lee DJ et al.

European Urology, 2022

34711450 (PubMed )
Supplement: NIHMS1772233-supplement-Supplementary_Tables.xlsx › TableS4

Platinum-based chemotherapy for pancreatic cancer: impact of mutations in the homologous recombination repair and Fanconi anemia genes.

Emelyanova M et al.

Therapeutic Advances in Medical Oncology, 2022

Double heterozygous pathogenic variants prevalence in a cohort of patients with hereditary breast cancer.

Megid TBC et al.

Frontiers in Oncology, 2022

Primary immunodeficiencies in Bulgaria - achievements and challenges of the PID National Expert Center.

Naumova E et al.

Frontiers in Immunology, 2022

36211402 (PubMed )
Supplement: DataSheet_1.pdf

MRN Complex and Cancer Risk: Old Bottles, New Wine.

Elkholi IE et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

Molecular and clinical determinants of response and resistance to rucaparib for recurrent ovarian cancer treatment in ARIEL2 (Parts 1 and 2).

Swisher EM et al.

Nature Communications, 2021

33941784 (PubMed )
Supplement: 41467_2021_22582_MOESM1_ESM.pdf

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Cobain EF et al.

Jama Oncology, 2021

33630025 (PubMed )
Supplement: jamaoncol-e207987-s006.xlsx › Sheet2

Morphologic and molecular analysis of early-onset gastric cancer.

Setia N et al.

Cancer, 2021

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.

Aoude LG et al.

Scientific Reports, 2020

33077847 (PubMed )
Supplement: 41598_2020_74956_MOESM2_ESM.xlsx › Table_S3
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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."