The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic.
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.
Kleibl
Zdenek
Z
Department of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, U Nemocnice 5, Prague, 12853, Czech Republic. zdekleje@lf1.cuni.cz
Novotny
Jan
J
Bezdickova
Drahomira
D
Malik
Radek
R
Kleiblova
Petra
P
Foretova
Lenka
L
Petruzelka
Lubos
L
Ilencikova
Denisa
D
Cinek
Petr
P
Pohlreich
Petr
P
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
D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases