Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.S706*
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NBN

NM_002485.5:p.S706*

Associated Papers

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

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

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

Escherich C et al.

Research Square, 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

Uterine carcinosarcoma associated with a germline nibrin (NBN) mutation.

Markert T et al.

Gynecologic Oncology Reports, 2022

Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.

Walsh T et al.

Npj Breast Cancer, 2021

33479248 (PubMed )
Supplement: 41523_2020_214_MOESM1_ESM.pdf

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

Wokołorczyk D et al.

International Journal of Cancer, 2020

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

Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.

Qin N et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020

A systematic review of the prevalence of DNA damage response gene mutations in prostate cancer.

Lang SH et al.

International Journal of Oncology, 2019

31322208 (PubMed )
Supplement: Supplementary_Data.pdf

Inherited NBN Mutations and Prostate Cancer Risk and Survival.

Rusak B et al.

Cancer Research and Treatment, 2019

An inherited NBN mutation is associated with poor prognosis prostate cancer.

Cybulski C et al.

British Journal of Cancer, 2013

Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer.

Zuhlke KA et al.

Familial Cancer, 2012

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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."