NBN 657del5 heterozygous mutations and colorectal cancer risk in the Czech Republic
Language English Country Netherlands Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
19393249
DOI
10.1016/j.mrfmmm.2009.04.004
PII: S0027-5107(09)00143-2
Knihovny.cz E-resources
- MeSH
- Adult MeSH
- Genetic Predisposition to Disease * MeSH
- Genotype MeSH
- Heterozygote * MeSH
- Nuclear Proteins MeSH
- Colorectal Neoplasms genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Mutation MeSH
- Cell Cycle Proteins MeSH
- Sequence Deletion MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
- Names of Substances
- Nuclear Proteins MeSH
- NBN protein, human MeSH Browser
- Cell Cycle Proteins MeSH
The most frequent Nijmegen breakage syndrome (NBS)-causing mutation is a 5-base pair deletion in gene coding for nibrin (NBN 657del5), which results in a non-fully functional protein product and is particularly frequent in Central and Eastern Europe. Recent studies have investigated whether NBN 657del5 carriage may predispose to an increased risk of different types of cancer. The Czech Republic has one of the highest incidences of colorectal cancer in the world as well as high incidence of NBS. To assess whether NBN 657del5 associates with an increased risk of sporadic colorectal cancer, we have screened 771 colorectal cancer patients, 614 controls with negative colonoscopy and 818 healthy blood donors from the Czech Republic. There were no significant differences between the frequencies of heterozygous carriers among the three groups. The present results do not provide any evidence that the exceeding risk of CRC in this population is attributable to the high frequency of heterozygous carriage of the NBN 657del5.
References provided by Crossref.org
DNA repair and cancer in colon and rectum: Novel players in genetic susceptibility
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
