Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.I171V
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NBN

NM_002485.5:p.I171V

Associated Papers

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_MOESM4_ESM.xlsx › Sayfa1

Identification of Poor Prognostic Markers in Triple-Negative Breast Cancer Using Whole Exome Sequencing.

Lee S et al.

Journal of Breast Cancer, 2025

41311331 (PubMed )
Supplement: jbc-28-406-s001.xls › jbc-28-406-s001

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

Multiple Primary Cancers as an Independent Criterion for Germline Testing: Comparison with Guideline-Based Criteria.

Shin K et al.

Journal of Clinical Medicine, 2025

41156180 (PubMed )
Supplement: jcm-14-07310-s001.zip › jcm-3796461-supplementary.pdf

Genetics Investigation of Idiopathic Premature Ovarian Insufficiency: Contribution of Array-CGH and Next-Generation Sequencing.

Cozette C et al.

Genes, 2025

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

A retrospective single-center pilot study of the genetic background of the transplanted kidney.

Novotna A et al.

Plos One, 2025

39777909 (PubMed )
Supplement: pone.0316192.s002.xlsx › List1

Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.

Wagner JT et al.

Frontiers in Molecular Biosciences, 2025

41158875 (PubMed )
Supplement: DataSheet1.xlsx › D

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.SNP_all_variants

Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.

Öfverholm I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38573684 (PubMed )
Supplement: ccr-24-0384_supplementary_data_6_suppts6.xlsx › Sheet1

Cancer risks related to intellectual disabilities: A systematic review.

Banda A et al.

Cancer Medicine, 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

Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Agaoglu NB et al.

Cancer Medicine, 2024

38308423 (PubMed )
Supplement: CAM4-13-e6852-s005.xlsx › Supp_Table_4

ATR inhibition using gartisertib enhances cell death and synergises with temozolomide and radiation in patient-derived glioblastoma cell lines.

Lozinski M et al.

Oncotarget, 2024

38227740 (PubMed )
Supplement: oncotarget-15-28551-s001.pdf

Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.

Chrysafi P et al.

Cancers, 2023

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

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

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

Escherich C et al.

Research Square, 2023

Variant curation and interpretation in hereditary cancer genes: An institutional experience in Latin America.

Manotas MC et al.

Molecular Genetics & Genomic Medicine, 2023

36905130 (PubMed )
Supplement: MGG3-11-e2141-s002.xlsx › VUS_Reclassified

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.

Goidescu IG et al.

Cancers, 2023

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

36125633 (PubMed )
Supplement: CAM4-12-4042-s001.xlsx › Sheet1

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

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

Sora V et al.

Protein Science : a Publication of the Protein Society, 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

Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy.

Montori A et al.

Biomedicines, 2022

Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.

Lieb V et al.

Cells, 2022

36429046 (PubMed )
Supplement: cells-11-03618-s001.zip › Suppl._files › Suppl._Table_S2_.xlsx › All

Identification of novel prognostic and predictive biomarkers in salivary duct carcinoma via comprehensive molecular profiling.

Kohsaka S et al.

Npj Precision Oncology, 2022

36333410 (PubMed )
Supplement: 41698_2022_324_MOESM3_ESM.xlsx › Mutations

Whole-Exome Sequencing Identifies Pathogenic Germline Variants in Patients with Lynch-Like Syndrome.

Dos Santos W et al.

Cancers, 2022

36077770 (PubMed )
Supplement: cancers-14-04233-s001.zip › cancers-1703647-Supplementary_Table_S3.xlsx › Supp.Table_S3

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › VUS

Germline pathogenic variants in unselected Korean men with prostate cancer.

So MK et al.

Investigative and Clinical Urology, 2022

35534218 (PubMed )
Supplement: icu-63-294-s001.xls › Sheet1

Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.

Kohaar I et al.

Nature Communications, 2022

35292633 (PubMed )
Supplement: 41467_2022_28945_MOESM6_ESM.xls › Supplementary_Table_3

An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.

Schwartz A et al.

Frontiers in Oncology, 2022

36091175 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_3

PARP1 Inhibitor and Trabectedin Combination Does Not Increase Tumor Mutational Burden in Advanced Sarcomas-A Preclinical and Translational Study.

Pignochino Y et al.

Cancers, 2021

Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.

Lieb V et al.

Cells, 2021

34831445 (PubMed )
Supplement: cells-10-03223-s001.zip › Suppl._Table_S1.xlsx › All

NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations.

Tomioka K et al.

Scientific Reports, 2021

The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.

Dong L et al.

Cancer Biology & Medicine, 2021

34570441 (PubMed )
Supplement: cbm-19-850-s001.pdf

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

Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Choi YY et al.

Scientific Reports, 2021

34285288 (PubMed )
Supplement: 41598_2021_94292_MOESM1_ESM.xlsx › Table_S2.

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.

Guglielmi C et al.

International Journal of Molecular Sciences, 2021

34299313 (PubMed )
Supplement: ijms-22-07693-s001.zip › ijms-1277723-supplementary.pdf

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

34298626 (PubMed )
Supplement: cancers-13-03406-s001.zip › cancers-1247507-supplementary › Supplementary_Tables_V12_18062021_REFs.xlsx › Supp_Table_3

Co-occurrence of thyroid and breast cancer is associated with an increased oncogenic SNP burden.

Bakos B et al.

Bmc Cancer, 2021

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

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

Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.

Yoshida R et al.

Cancer Science, 2021

33421217 (PubMed )
Supplement: CAS-112-1310-s003.xlsx › Table_S2

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Potulska-Chromik A et al.

Journal of Clinical Medicine, 2021

33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering

Multigene Panel Testing for Hereditary Cancer and Genetic Counseling.

Lee ES et al.

Advances in Experimental Medicine and Biology, 2021

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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."