title: CHEK2 I157T and colorectal cancer in Bulgaria.
abstract: OBJECTIVE
  Germline variants of the CHEK2 gene have been shown to act as low-penetrance cancer susceptibility alleles for a wide range of human malignancies. CHEK2 I157T has particularly been linked to colorectal cancer (CRC) risk. We aimed at establishing the population frequency and contribution of this variant to colorectal carcinogenesis in Bulgaria.
  
  
  METHODS
  We have genotyped 802 population controls and 343 CRC patients from Bulgaria for the CHEK2 I157T variant.
  
  
  RESULTS
  Heterozygous were 9 of 343 patients (2.62%, odds ratio/OR=1.0, 95% confidence interval/CI = 0.42 - 2.33, p=0.99% and 21 of 802 controls (2.62%). Higher frequencies were found among patients with multiple polyposis (2/40, 5%, p=0.28) and the rarer mucinous histology (1/11, 9.09%, p= 0.26).
  
  
  CONCLUSIONS
  We conclude that CHEK2 I157T is not relevant for CRC risk in Bulgaria, but studies on a larger scale might help evaluate its possible significance in respect to disease characteristics.
authors.affiliation: Molecular Medicine Center, Medical University, Sofia and University Hospital of Obstetrics and Gynaecology "Maichin Dom", 2 Zdrave Street, 1431 Sofia, Bulgaria. darivko@gmail.com
authors.forename: D
authors.initials: D
authors.lastname: Konstantinova
authors.forename: T
authors.initials: T
authors.lastname: Kadiyska
authors.forename: V
authors.initials: V
authors.lastname: Sokolova
authors.forename: R
authors.initials: R
authors.lastname: Kaneva
authors.forename: M
authors.initials: M
authors.lastname: Mirchev
authors.forename: A
authors.initials: A
authors.lastname: Savov
authors.forename: A
authors.initials: A
authors.lastname: Aleksandrova
authors.forename: D
authors.initials: D
authors.lastname: Nedin
authors.forename: E
authors.initials: E
authors.lastname: Kostadinov
authors.forename: D
authors.initials: D
authors.lastname: Damyanov
authors.forename: I
authors.initials: I
authors.lastname: Kremensky
authors.forename: V
authors.initials: V
authors.lastname: Mitev
mesh_terms: D002031:Bulgaria; D002353:Carrier State; D002453:Cell Cycle / Q000235:genetics; D064447:Checkpoint Kinase 2; D015179:Colorectal Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D017931:DNA Primers; D016147:Genes, Tumor Suppressor; D006801:Humans; D009367:Neoplasm Staging; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D017931:DNA Primers; D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases