Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.R43*
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NBN

NM_002485.5:p.R43*

Associated Papers

Ivabradine induces RAD51 degradation, potentiating PARP inhibitor efficacy in non-germline BRCA pathogenic variant triple-negative breast cancer.

Tsoi H et al.

Journal of Translational Medicine, 2025

40764992 (PubMed )
Supplement: 12967_2025_6902_MOESM4_ESM.xlsx › Sheet1

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

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.

Bates BA et al.

Hgg Advances, 2025

39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_4.

Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Usui Y et al.

Cancer Science, 2022

36065483 (PubMed )
Supplement: CAS-113-3972-s007.pdf

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

MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Ikegami M et al.

Communications Biology, 2021

34912045 (PubMed )
Supplement: 42003_2021_2930_MOESM4_ESM.xlsx › Target_sequencing_clinical

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Southey MC et al.

Npj Breast Cancer, 2021

34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf

Clinically Advanced Pheochromocytomas and Paragangliomas: A Comprehensive Genomic Profiling Study.

Bratslavsky G et al.

Cancers, 2021

34282751 (PubMed )
Supplement: cancers-13-03312-s001.zip › cancers-1207950-supplementary.xlsx › Sheet1

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

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.

Pandey K et al.

Genes, 2021

Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Zimmermann MT et al.

Frontiers in Oncology, 2021

33747920 (PubMed )
Supplement: DataSheet_2.xlsx › Table_S5

Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.

Pearlman R et al.

Jco Precision Oncology, 2021

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary

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

McPherson MT et al.

Cancers, 2020

33339169 (PubMed )
Supplement: cancers-12-03794-s001.pdf

Case Report: A Unique Case of Pediatric Central Nervous System Embryonal Tumor Harboring the CIC-LEUTX Fusion, Germline NBN Variant and Somatic TSC2 Mutation: Expanding the Spectrum of CIC-Rearranged Neoplasia.

Hu W et al.

Frontiers in Oncology, 2020

Multigene testing of moderate-risk genes: be mindful of the missense.

Young EL et al.

Journal of Medical Genetics, 2016

26787654 (PubMed )
Supplement: jmedgenet-2015-103398-s2.pdf

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s3.xlsx › supplementary_data_2

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

LaDuca H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

24763289 (PubMed )
Supplement: gim201440x3.xls › Sheet1

New mutations and protein variants of NBS1 are identified in cancer cell lines.

Tessitore A et al.

Genes, Chromosomes & Cancer, 2003

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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."