Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene
| Autor: | Jerzy Nowak, I. Ziolkowska, Maria Mosor, Monika Pernak-Schwarz, Małgorzata Rydzanicz, Małgorzata Wierzbicka |
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| Rok vydání: | 2007 |
| Předmět: |
Larynx
Adult Cancer Research medicine.medical_specialty Population Genetic Carrier Screening Cell Cycle Proteins Gastroenterology Loss of heterozygosity Neoplasms Multiple Primary Risk Factors Internal medicine Epidemiology Medicine Humans Lymphocytes education Laryngeal Neoplasms Aged Aged 80 and over education.field_of_study business.industry Cancer Nuclear Proteins General Medicine Odds ratio DNA Neoplasm Middle Aged medicine.disease Confidence interval medicine.anatomical_structure Oncology Amino Acid Substitution Immunology Mutation business |
| Zdroj: | Cancer science. 98(11) |
| ISSN: | 1349-7006 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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