ArticleCancer science2007
Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene.
Article in Cancer science, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 37 citations in OpenAlex.
- 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
- Pooled it
- Investigating the association of NBN gene polymorphisms with multiple cancers through statistical meta-analysis and bioinformatics insights.Biology methods & protocols · 2026Review
- The most frequent PolishArchives of medical science : AMS · 2021Article
- Review
- Genetic variants in ATM, H2AFX and MRE11 genes and susceptibility to breast cancer in the polish population.BMC cancer · 2018Article
- NBS1 rs2735383 polymorphism is associated with an increased risk of laryngeal carcinoma.BMC cancer · 2018Article
- Heterozygous p.I171V mutation of theOncology letters · 2015Article
- Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.Familial cancer · 2015Article
- NBN Gene Polymorphisms and Cancer Susceptibility: A Systemic Review.Current genomics · 2013Article
- Article
- The MRN protein complex genes: MRE11 and RAD50 and susceptibility to head and neck cancers.Molecular cancer · 2013Article
- Association between single-nucleotide polymorphisms of selected genes involved in the response to DNA damage and risk of colon, head and neck, and breast cancers in a Polish population.Journal of applied genetics · 2010Article
- The frequency of NBN molecular variants in pediatric astrocytic tumors.Journal of neuro-oncology · 2010Article
- 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.BMC cancer · 2009Article
- NBS1 Heterozygosity and Cancer Risk.Current genomics · 2008Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The high incidence of multiple primary tumors (MPT) is a significant problem in head and neck tumor treatment. Recent studies suggest that carriers of heterozygous mutations in the NBS1 gene have an increased risk of malignant tumor development. The aim of our research was to assess the frequency of NBS1 mutations in patients with larynx cancer only (LC) and with MPT. The MPT group consisted of patients with one cancer localized to the larynx (primary or second) and another at another site. DNA from 175 patients with LC and 93 patients with MPT was analyzed using the single-strand conformation polymorphism method and direct sequencing. We found nine carriers of the I171V mutation among these 268 cancer patients and only one carrier among 500 population controls (0.2%). Four carriers of the I171V mutation were detected among 175 LC patients (2.3%) and five among 93 patients with MPT (5.4%). The frequencies of the I171V mutation carriers in LC and MPT patients were significantly higher than in controls (odds ratio [OR] = 11.7, confidence interval [CI] 1.3-105.2, P = 0.0175 and OR = 28.35, CI 3.27-245.7, P = 0.0005, respectively). In one individual with LC, a novel molecular variant, c.1222 A > G (p.K408E), was identified. No carriers of R215W or 657del5 NBS1 mutations were found in the present study. These findings imply that heterozygous carriers of the I171V mutation are prone to the development of larynx cancer and may, in addition, display an increased risk of second tumors at other sites.
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