Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.S53fs
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NBN

NM_002485.5:p.S53fs

Associated Papers

Light and shade of multigene panel testing for hereditary cancer: Examples from the real world.

Innella G et al.

Tumori, 2024

Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.

Tam CS et al.

Blood Advances, 2024

38315878 (PubMed )
Supplement: BLOODA_ADV-2023-010906-mmc1.pdf

Comprehensive Molecular Profiling of NPM1-Mutated Acute Myeloid Leukemia Using RNAseq Approach.

Petiti J et al.

International Journal of Molecular Sciences, 2024

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.

Stoltze UK et al.

Genome Medicine, 2023

36918911 (PubMed )
Supplement: 13073_2023_1167_MOESM2_ESM.xlsx › Table_S4_LoFP_variants

Extended gene panel testing in lobular breast cancer.

van Veen EM et al.

Familial Cancer, 2022

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

TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

Lesueur F et al.

Cancers, 2021

34359559 (PubMed )
Supplement: cancers-13-03659-s001.zip › cancers-1273124-supplementary.pdf

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

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 2020

High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.

Bertelsen B et al.

Npj Genomic Medicine, 2019

31263571 (PubMed )
Supplement: 41525_2019_87_MOESM1_ESM.pdf

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

Castéra L et al.

European Journal of Human Genetics : Ejhg, 2014

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