The 12p13.33/RAD52 locus and genetic susceptibility to squamous cell cancers of upper aerodigestive tract

PLoS One. 2015 Mar 20;10(3):e0117639. doi: 10.1371/journal.pone.0117639. eCollection 2015.

Abstract

Genetic variants located within the 12p13.33/RAD52 locus have been associated with lung squamous cell carcinoma (LUSC). Here, within 5,947 UADT cancers and 7,789 controls from 9 different studies, we found rs10849605, a common intronic variant in RAD52, to be also associated with upper aerodigestive tract (UADT) squamous cell carcinoma cases (OR = 1.09, 95% CI: 1.04-1.15, p = 6x10(-4)). We additionally identified rs10849605 as a RAD52 cis-eQTL inUADT(p = 1x10(-3)) and LUSC (p = 9x10(-4)) tumours, with the UADT/LUSC risk allele correlated with increased RAD52 expression levels. The 12p13.33 locus, encompassing rs10849605/RAD52, was identified as a significant somatic focal copy number amplification in UADT(n = 374, q-value = 0.075) and LUSC (n = 464, q-value = 0.007) tumors and correlated with higher RAD52 tumor expression levels (p = 6x10(-48) and p = 3x10(-29) in UADT and LUSC, respectively). In combination, these results implicate increased RAD52 expression in both genetic susceptibility and tumorigenesis of UADT and LUSC tumors.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Carcinoma, Squamous Cell / genetics*
  • Case-Control Studies
  • Chromosomes, Human, Pair 12 / genetics*
  • Computer Simulation
  • Demography
  • Female
  • Genetic Loci*
  • Genetic Predisposition to Disease*
  • Germ Cells
  • Head and Neck Neoplasms / genetics*
  • Humans
  • Lung Neoplasms / genetics
  • Male
  • Middle Aged
  • Physical Chromosome Mapping
  • Polymorphism, Single Nucleotide / genetics
  • Quantitative Trait Loci / genetics
  • Rad52 DNA Repair and Recombination Protein / genetics*
  • Risk Factors

Substances

  • RAD52 protein, human
  • Rad52 DNA Repair and Recombination Protein