title: Hodgkin disease therapy induced second malignancy susceptibility 6q21 functional variants in roma and hungarian population samples.
abstract: Patients treated successfully for pediatric Hodgkin's lymphoma are known to develop secondary malignancies; care is already taken in treatment to prevent this adverse effect. Recent GWAS study identified rs4946728 and rs1040411 noncoding SNPs located between PRDM1 and ATG1 genes on chromosome 6q21 as risk factors for secondary malignancies in patients formerly treated with radiotherapy for pediatric Hodgkin disease. We investigated the allele frequencies of these two SNPs in biobanked, randomly selected DNA of average, apparently healthy Hungarians (n = 277) and in samples of Roma (n = 279) population living Hungary. The risk allele frequency for rs4946728 was 79.4 % in Hungarian and 83.5 % in Roma samples, while for rs1040411 it was 56.4 % in Hungarian and 55.8 % in Roma samples. These values are quite similar in the two populations, and are rather high. The values are higher than those frequencies observed in the controls (rs4946728: 59.1 % and rs1040411: 39.6 %, p < 0.05), and are in the range of the cases (86 % and 68.2 %, respectively) of the above original GWAS study. Our findings suggest, that beside the already taken precautions, genetic characterization of Hungarian pediatric Hodgkin patients seems to be advantageous prior to the treatment of their disease.
authors.affiliation: Department of Dermatology, Venereology and Oncodermatology, University of Pecs, Pecs, Hungary.
authors.forename: Dalma
authors.initials: D
authors.lastname: Varszegi
authors.forename: Balazs
authors.initials: B
authors.lastname: Duga
authors.forename: Bela I
authors.initials: BI
authors.lastname: Melegh
authors.forename: Katalin
authors.initials: K
authors.lastname: Sumegi
authors.forename: Peter
authors.initials: P
authors.lastname: Kisfali
authors.forename: Anita
authors.initials: A
authors.lastname: Maasz
authors.forename: Bela
authors.initials: B
authors.lastname: Melegh
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000071189:Autophagy-Related Protein-1 Homolog; D016022:Case-Control Studies; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D004198:Disease Susceptibility; D005260:Female; D005500:Follow-Up Studies; D015972:Gene Expression Regulation, Neoplastic / Q000235:genetics*; D005787:Gene Frequency; D006689:Hodgkin Disease / Q000532:radiotherapy*; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D016609:Neoplasms, Second Primary / Q000453:epidemiology / Q000209:etiology* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D000074462:Positive Regulatory Domain I-Binding Factor 1; D011379:Prognosis; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D011878:Radiotherapy / Q000009:adverse effects*; D012097:Repressor Proteins / Q000235:genetics; D012307:Risk Factors; D006178:Romani People / Q000235:genetics*; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D012097:Repressor Proteins; C087042:PRDM1 protein, human; D000074462:Positive Regulatory Domain I-Binding Factor 1; D000071189:Autophagy-Related Protein-1 Homolog; D017346:Protein Serine-Threonine Kinases; C484754:ULK1 protein, human