title: NBN 657del5 heterozygous mutations and colorectal cancer risk in the Czech Republic.
abstract: 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.
authors.affiliation: Institute of Experimental Medicine, Academy of Sciences of Czech Republic, Prague, Czech Republic.
authors.forename: Barbara
authors.initials: B
authors.lastname: Pardini
authors.forename: Alessio
authors.initials: A
authors.lastname: Naccarati
authors.forename: Veronika
authors.initials: V
authors.lastname: Polakova
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Smerhovsky
authors.forename: Ivona
authors.initials: I
authors.lastname: Hlavata
authors.forename: Pavel
authors.initials: P
authors.lastname: Soucek
authors.forename: Jan
authors.initials: J
authors.lastname: Novotny
authors.forename: Ludmila
authors.initials: L
authors.lastname: Vodickova
authors.forename: Vera
authors.initials: V
authors.lastname: Tomanova
authors.forename: Stefano
authors.initials: S
authors.lastname: Landi
authors.forename: Pavel
authors.initials: P
authors.lastname: Vodicka
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018797:Cell Cycle Proteins; D015179:Colorectal Neoplasms / Q000235:genetics*; D018153:Czech Republic; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins; D017384:Sequence Deletion
chemical_list: D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins