Hodgkin disease therapy induced second malignancy susceptibility 6q21 functional variants in Roma and Hungarian population samples

Dalma Varszegi, Balazs Duga, Bela I. Melegh, Katalin Sumegi, Peter Kisfali, Anita Maasz, Bela Melegh

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4 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)529-533
Number of pages5
JournalPathology and Oncology Research
Issue number3
Publication statusPublished - Jul 2014



  • Genetics
  • Hodgkin's lymphoma
  • PRDM1
  • Susceptibility

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Oncology
  • Cancer Research

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