Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.L34L
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NBN

NM_002485.5:p.L34L

Associated Papers

Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

Kerle IA et al.

Npj Precision Oncology, 2025

39794422 (PubMed )
Supplement: 41698_2024_788_MOESM7_ESM.xlsx › patient_10_panel_small_variants

Association of a CHEK2 somatic variant with tumor microenvironment calprotectin expression predicts platinum resistance in a small cohort of ovarian carcinoma.

de Amorim IFG et al.

Plos One, 2025

40146757 (PubMed )
Supplement: pone.0315487.s005.xlsx › All_variants

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Kleo K et al.

Journal of Cancer Research and Clinical Oncology, 2023

35246724 (PubMed )
Supplement: 432_2022_3944_MOESM1_ESM.xlsx › variant-list

Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.

Chen D et al.

Frontiers in Oncology, 2022

36518309 (PubMed )
Supplement: Table_1.xlsx › Sheet1

New Approach for Detection of Normal Alternative Splicing Events and Aberrant Spliceogenic Transcripts with Long-Range PCR and Deep RNA Sequencing.

Dragoš VŠ et al.

Biology, 2021

34439939 (PubMed )
Supplement: biology-10-00706-s001.zip › New_protocol_LR-PCR_RNAseq-2021_IJMS-Supplementary_table_2.xlsx › control_genotypes

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

34072463 (PubMed )
Supplement: ijms-22-05832-s001.zip › Supplementary_Table_1.pdf

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC34

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Yadav S et al.

Oncogene, 2020

32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y et al.

Journal of the National Cancer Institute, 2020

31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_6

Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.

Pan ZW et al.

Frontiers in Oncology, 2019

30967997 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1

Germline mutation in the TP53 gene in uveal melanoma.

Hajkova N et al.

Scientific Reports, 2018

29769598 (PubMed )
Supplement: 41598_2018_26040_MOESM2_ESM.xlsx › Supplementary_Table_S1

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s003.xlsx › S3

Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Kim YC et al.

Plos One, 2017

28076423 (PubMed )
Supplement: pone.0167581.s001.xlsx › Sheet1

Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.

Kim H et al.

Familial Cancer, 2015

NBN Gene Polymorphisms and Cancer Susceptibility: A Systemic Review.

Berardinelli F et al.

Current Genomics, 2013

Germline variants in MRE11/RAD50/NBN complex genes in childhood leukemia.

Mosor M et al.

Bmc Cancer, 2013

RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer.

He M et al.

Breast Cancer Research and Treatment, 2012

Association of polymorphisms and haplotypes of the NBN gene with laryngeal cancer and multiple primary tumors of the head and neck.

Ziółkowska-Suchanek I et al.

Head & Neck, 2012

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

Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene.

Bartkova J et al.

Molecular Oncology, 2008

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

Ziólkowska I et al.

Cancer Science, 2007

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

Mosor M et al.

Leukemia, 2006

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

Cerosaletti KM et al.

Genes, Chromosomes & Cancer, 2002

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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."