Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.D95N
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NBN

NM_002485.5:p.D95N

Associated Papers

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-s001.xlsx › Suppl.Tab5_187VUS_n372

Expanding the Genomic Landscape of HBOC and Cancer Risk Among Mutation Carriers.

Vietri MT et al.

International Journal of Molecular Sciences, 2025

40649708 (PubMed )
Supplement: ijms-26-05928-s001.zip › ijms-3676111-supplementary.pdf

Alterations in DNA Damage Repair Genes Before and After Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer.

Lemberger U et al.

European Urology Open Science, 2025

39717660 (PubMed )
Supplement: mmc4.xlsx › Raw_data

Genomic Characterization of Preclinical Prostate Cancer Cell Line Models.

Beatson EL et al.

International Journal of Molecular Sciences, 2024

Germline variants in early and late-onset Brazilian prostate cancer patients.

Coelho KBCA et al.

Urologic Oncology, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15

Establishment and Thorough Characterization of Xenograft (PDX) Models Derived from Patients with Pancreatic Cancer for Molecular Analyses and Chemosensitivity Testing.

Behrens D et al.

Cancers, 2023

38136299 (PubMed )
Supplement: cancers-15-05753-s001.zip › Behrens_Cancers2023_SuppTables.xlsx › Table_S2

Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.

Guijarro F et al.

Blood Advances, 2023

37450374 (PubMed )
Supplement: BLOODA_ADV-2023-009742-mmc2.xlsx › 20220406_291_germline_paired_gn

Molecular Analysis of Biliary Tract Cancers with the Custom 3' RACE-Based NGS Panel.

Mitiushkina NV et al.

Diagnostics (basel, Switzerland), 2023

37891989 (PubMed )
Supplement: diagnostics-13-03168-s001.zip › diagnostics-2617903-supplementary.pdf

Germline Genetic NBN Variation and Predisposition to B-cell Acute Lymphoblastic Leukemia in Children.

Escherich C et al.

Research Square, 2023

RosettaDDGPrediction for high-throughput mutational scans: From stability to binding.

Sora V et al.

Protein Science : a Publication of the Protein Society, 2023

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

Heddar A et al.

Ebiomedicine, 2022

36099812 (PubMed )
Supplement: mmc3.xlsx › Sheet1

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

33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3

The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.

Fierheller CT et al.

Cancers, 2021

Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Ferrer-Avargues R et al.

Cancer Communications (london, England), 2021

33630411 (PubMed )
Supplement: CAC2-41-218-s001.xlsx › Table_S3_

Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.

Wokołorczyk D et al.

International Journal of Cancer, 2020

Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.

Fanale D et al.

Cancers, 2020

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

Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Van Marcke C et al.

Breast Cancer Research : Bcr, 2020

32295625 (PubMed )
Supplement: 13058_2020_1273_MOESM1_ESM.xlsx › Table_S2

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s100.xlsx › Sheet1

Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Suratannon N et al.

Frontiers in Immunology, 2020

32373116 (PubMed )
Supplement: Table_1.xlsx › Table_E1_Previously_diagnosed

Applied precision medicine in metastatic pancreatic ductal adenocarcinoma.

Taghizadeh H et al.

Therapeutic Advances in Medical Oncology, 2020

Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.

Tedaldi G et al.

Cancers, 2019

31514334 (PubMed )
Supplement: cancers-11-01340-s001.pdf

Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel.

Leongamornlert DA et al.

European Urology, 2019

NBN Gene Analysis and it's Impact on Breast Cancer.

Nithya P et al.

Journal of Medical Systems, 2019

Pathogenic Germ Line Variants in a Patient With Severe Toxicity From Breast Radiotherapy.

Wilhite TJ et al.

Clinical Breast Cancer, 2019

Genomic analysis of DNA repair genes and androgen signaling in prostate cancer.

Jividen K et al.

Bmc Cancer, 2018

30305041 (PubMed )
Supplement: 12885_2018_4848_MOESM1_ESM.xlsx › Sheet1

Frequent basal cell cancer development is a clinical marker for inherited cancer susceptibility.

Cho HG et al.

Jci Insight, 2018

Pancreatic cancer as a sentinel for hereditary cancer predisposition.

Young EL et al.

Bmc Cancer, 2018

29945567 (PubMed )
Supplement: 12885_2018_4573_MOESM1_ESM.xlsx › Supplemental_Table_2

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2018

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AR

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

NBN and XRCC3 genetic variants in childhood acute lymphoblastic leukaemia.

Smolkova B et al.

Cancer Epidemiology, 2014

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1

Functional variants in NBS1 and cancer risk: evidence from a meta-analysis of 60 publications with 111 individual studies.

Gao P et al.

Mutagenesis, 2013

Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer.

Desjardins S et al.

Bmc Cancer, 2009

Polymorphisms and haplotypes of the NBS1 gene in childhood acute leukaemia.

Mosor M et al.

European Journal of Cancer (oxford, England : 1990), 2008

NBS1 Heterozygosity and Cancer Risk.

di Masi A et al.

Current Genomics, 2008

Genetic variations in DNA repair genes, radiosensitivity to cancer and susceptibility to acute tissue reactions in radiotherapy-treated cancer patients.

Chistiakov DA et al.

Acta Oncologica (stockholm, Sweden), 2008

Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene.

Ziólkowska I et al.

Cancer Science, 2007

JAK2 mutation in a boy with polycythemia vera, but not in other pediatric hematologic Disorders.

Park MJ et al.

Leukemia, 2006

Association of the heterozygous germline I171V mutation of the NBS1 gene with childhood acute lymphoblastic leukemia.

Mosor M et al.

Leukemia, 2006

Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer.

Hebbring SJ et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2006

Nibrin forkhead-associated domain and breast cancer C-terminal domain are both required for nuclear focus formation and phosphorylation.

Cerosaletti KM et al.

The Journal of Biological Chemistry, 2003

Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability.

Tauchi H et al.

Oncogene, 2002

Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma.

Cerosaletti KM et al.

Genes, Chromosomes & Cancer, 2002

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