Varaico: Literature-Extracted Genetic Variants

Gene:NBN
Variant:p.S638_N639Splc
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NBN

NM_002485.5:p.S638_N639Splc

Associated Papers

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

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

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

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

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 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

NBN Gene Polymorphisms and Cancer Susceptibility: A Systemic Review.

Berardinelli F et al.

Current Genomics, 2013

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

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."