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Hodgkin disease therapy induced second malignancy susceptibility 6q21 functional variants in roma and hungarian

Dalma Varszegi1, Balazs Duga, Bela I Melegh

  • 1Department of Dermatology, Venereology and Oncodermatology, University of Pecs, Pecs, Hungary.

Pathology Oncology Research : POR
|December 6, 2013
PubMed

Insights

Genetic variants increase secondary cancer risk in pediatric Hodgkin

Area of Science:

  • Genetics
  • Oncology
  • Epidemiology

Background:

  • Pediatric Hodgkin's lymphoma survivors face increased risk of secondary malignancies.
  • Radiotherapy for Hodgkin's lymphoma is a known risk factor for these secondary cancers.
  • Genome-wide association studies (GWAS) identified specific SNPs associated with secondary malignancy risk.

Purpose of the Study:

  • To investigate the allele frequencies of two specific SNPs (rs4946728 and rs1040411) in Hungarian and Roma populations.
  • To compare these frequencies with control groups and previously identified case data.
  • To assess the potential benefit of genetic characterization in Hungarian pediatric Hodgkin's lymphoma patients.

Main Methods:

  • Analysis of DNA samples from randomly selected, apparently healthy individuals from Hungarian (n=277) and Roma (n=279) populations.
  • Genotyping of single nucleotide polymorphisms (SNPs) rs4946728 and rs1040411.
  • Comparison of allele frequencies with existing control and case data from a prior GWAS.

Main Results:

  • High risk allele frequencies for rs4946728 (Hungarian: 79.4%, Roma: 83.5%) and rs1040411 (Hungarian: 56.4%, Roma: 55.8%) were observed.
  • These frequencies were significantly higher than in control populations.
  • The observed frequencies were comparable to those found in patients who developed secondary malignancies.

Conclusions:

  • The studied SNPs show high allele frequencies in both Hungarian and Roma populations.
  • These findings suggest a potential genetic predisposition to secondary malignancies in these populations.
  • Genetic screening prior to treatment could aid in managing secondary malignancy risk for Hungarian pediatric Hodgkin's lymphoma patients.

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