title: The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic.
abstract: In this study we performed the CHEK2 c.1100delC mutation analysis in 1046 breast cancer patients and 730 unaffected control individuals. The mutated allele was found in 3 out of 688 unselected sporadic breast cancer patients and in 1 out of 358 familial/early onset breast cancer patients. Two mutations were identified in a cohort of 730 controls. Our results support the finding that frequency of CHEK2 c.1100delC mutation varies among different populations. Based on our results, genotyping of CHEK2 c.1100delC mutation in clinical settings in the Czech Republic could not be recommended.
authors.affiliation: Department of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, U Nemocnice 5, Prague, 12853, Czech Republic. zdekleje@lf1.cuni.cz
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Kleibl
authors.forename: Jan
authors.initials: J
authors.lastname: Novotny
authors.forename: Drahomira
authors.initials: D
authors.lastname: Bezdickova
authors.forename: Radek
authors.initials: R
authors.lastname: Malik
authors.forename: Petra
authors.initials: P
authors.lastname: Kleiblova
authors.forename: Lenka
authors.initials: L
authors.lastname: Foretova
authors.forename: Lubos
authors.initials: L
authors.lastname: Petruzelka
authors.forename: Denisa
authors.initials: D
authors.lastname: Ilencikova
authors.forename: Petr
authors.initials: P
authors.lastname: Cinek
authors.forename: Petr
authors.initials: P
authors.lastname: Pohlreich
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000453:epidemiology* / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000453:epidemiology* / Q000235:genetics*; D016022:Case-Control Studies; D064447:Checkpoint Kinase 2; D018153:Czech Republic / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012306:Risk
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases