title: Role of 657del5 NBN mutation and 7p12.2 (IKZF1), 9p21 (CDKN2A), 10q21.2 (ARID5B) and 14q11.2 (CEBPE) variation and risk of childhood ALL in the Polish population.
abstract: Recent studies have shown that SNPs mapping to 7p12.2 (IKZF1), 9p21 (CDKN2A), 10q21.2 (ARID5B), and 14q11.2 (CEBPE) and carrier status for recessively inherited Nijmegen Breakage syndrome (NBS) influence childhood acute lymphoblastic leukemia (ALL) risk. To examine these relationship, we analysed 398 ALL cases and 731 controls from Poland. Statistically significant association between genotype at 7p12.2 (IKZF1), 10q21.2 (ARID5B) and the NBS associated locus, 8q21.3 (NBN) and ALL risk was found; odds ratios (ORs), 1.34 (P=0.002), 1.33 (P=0.003), and 1325.21 (P=0.0028), respectively. These data provide further insights into the biological basis of ALL highlighting the existence of both common and rare disease susceptibility variants.
authors: Department of Pediatrics, Hematology, Oncology and Diabetology, Medical University of Lodz, Lodz, Poland. ciel@tlen.pl
authors: Agata
authors: A
authors: Pastorczak
authors: Patryk
authors: P
authors: Górniak
authors: Amy
authors: A
authors: Sherborne
authors: Fay
authors: F
authors: Hosking
authors: Joanna
authors: J
authors: Trelińska
authors: Monika
authors: M
authors: Lejman
authors: Tomasz
authors: T
authors: Szczepański
authors: Maciej
authors: M
authors: Borowiec
authors: Wojciech
authors: W
authors: Fendler
authors: Jerzy
authors: J
authors: Kowalczyk
authors: Richard S
authors: RS
authors: Houlston
authors: Wojciech
authors: W
authors: Młynarski
mesh_terms: D000293:Adolescent; D000951:Antigens, Neoplasm / Q000235:genetics*; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics*; D016022:Case-Control Studies; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D051740:Ikaros Transcription Factor / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D011044:Poland; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D011379:Prognosis
chemical_list: C493892:ARID4B protein, human; D000951:Antigens, Neoplasm; D022762:CCAAT-Enhancer-Binding Proteins; D018797:Cell Cycle Proteins; D019941:Cyclin-Dependent Kinase Inhibitor p16; C497239:IKZF1 protein, human; C112156:NBN protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; C070790:CEBPE protein, human; D051740:Ikaros Transcription Factor; D004247:DNA