Article
NBN 657del5 heterozygous mutations and colorectal cancer risk in the Czech Republic.
Mutation research - 18 Jun 2009
Pardini Barbara, Naccarati Alessio, Polakova Veronika, Smerhovsky Zdenek, Hlavata Ivona, Soucek Pavel, Novotny Jan, Vodickova Ludmila, Tomanova Vera, Landi Stefano, Vodicka Pavel
Abstract excerpt
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...
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