ArticleBMC cancer2009
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.
Article in BMC cancer, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- NBS1 Glu185Gln polymorphism and cancer risk: update on current evidence.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- Association between the NBS1 Glu185Gln polymorphism and breast cancer risk: a meta-analysis.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2013Pooled it
- Investigating the association of NBN gene polymorphisms with multiple cancers through statistical meta-analysis and bioinformatics insights.Biology methods & protocols · 2026Review
- Understanding genetic variations associated with familial breast cancer.World journal of surgical oncology · 2024Review
- Importance of Germline and Somatic Alterations in HumanInternational journal of molecular sciences · 2023Review
- Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors.Frontiers in oncology · 2022Review
- Review
- Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?International journal of molecular sciences · 2021Review
- The Role of Human Papilloma Virus in Dictating Outcomes in Head and Neck Squamous Cell Carcinoma.Frontiers in molecular biosciences · 2021Review
- Review
- Article
- NBS1 rs2735383 polymorphism is associated with an increased risk of laryngeal carcinoma.BMC cancer · 2018Article
- Association of Single-Nucleotide Polymorphisms in Monoubiquitinated FANCD2-DNA Damage Repair Pathway Genes With Breast Cancer in the Chinese Population.Technology in cancer research & treatment · 2018Article
- A pilot study on the prevalence of DNA palindromes in breast cancer genomes.BMC medical genomics · 2016Article
- Whole-exome sequencing to identify somatic mutations in peritoneal metastatic gastric adenocarcinoma: A preliminary study.Oncotarget · 2016Article
- Association of the nibrin gene (Biomedical reports · 2016Article
- Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.Familial cancer · 2015Article
- Genetics of breast cancer: a topic in evolution.Annals of oncology : official journal of the European Society for Medical Oncology · 2015Review
- Understanding patient and provider perceptions and expectations of genomic medicine.Journal of surgical oncology · 2015Review
- Cancer risk assessment using genetic panel testing: considerations for clinical application.Journal of genetic counseling · 2014Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe Nijmegen Breakage Syndrome is a chromosomal instability disorder characterized by microcephaly, growth retardation, immunodeficiency, and increased frequency of cancers. Familial studies on relatives of these patients indicated that they also appear to be at increased risk of cancer.
methodsIn a candidate gene study aiming at identifying genetic determinants of breast cancer susceptibility, we undertook the full sequencing of the NBN gene in our cohort of 97 high-risk non-BRCA1 and -BRCA2 breast cancer families, along with 74 healthy unrelated controls, also from the French Canadian population. In silico programs (ESEfinder, NNSplice, Splice Site Finder and MatInspector) were used to assess the putative impact of the variants identified. The effect of the promoter variant was further studied by luciferase gene reporter assay in MCF-7, HEK293, HeLa and LNCaP cell lines.
resultsTwenty-four variants were identified in our case series and their frequency was further evaluated in healthy controls. The potentially deleterious p.Ile171Val variant was observed in one case only. The p.Arg215Trp variant, suggested to impair NBN binding to histone gamma-H2AX, was observed in one breast cancer case and one healthy control. A promoter variant c.-242-110delAGTA displayed a significant variation in frequency between both sample sets. Luciferase reporter gene assay of the promoter construct bearing this variant did not suggest a variation of expression in the MCF-7 breast cancer cell line, but indicated a reduction of luciferase expression in both the HEK293 and LNCaP cell lines.
conclusionOur analysis of NBN sequence variations indicated that potential NBN alterations are present, albeit at a low frequency, in our cohort of high-risk breast cancer cases. Further analyses will be needed to fully ascertain the exact impact of those variants on breast cancer susceptibility, in particular for variants located in NBN promoter region.
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