Frequent homozygous deletions of the CDKN2A locus in somatic cancer tissues: analysis of chromosomal aberrations in cell cycle regulator genes
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Date
2018-12
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The Ohio State University
Abstract
Homozygous deletions (HD) of human CDKN2A and neighboring regions on the p arm of Chromosome 9 have been previously reported in some cancers but a pan-cancer analysis of the aberrations of this locus is lacking. Here we analyzed the copy number variations that include CDKN2A locus using data acquired with an Affymetrix SNP6.0 array and deposited on the Catalogue of Somatic Mutations in Cancer (COSMIC) database. We find that inactivation of CDKN2A by HD is not cancer specific. A majority of HDs of this locus have a median range of 1,255,650 base pairs. We then mapped the positions of breakpoints of these deletions on both the telomere and centromere proximal sides of CDKN2A. Remarkably, most of the telomere proximal breakpoints map to a narrow region of the chromosome where the genes MTAP and MIR31HG are located. The centromere proximal breakpoints of the deletions are distributed over a wider chromosomal region. This comprehensive analysis shows that inactivation of CDKN2A by homozygous deletion is not cancer specific but rather determined by the chromosomal region.
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Keywords
cancer genetics, human genetics, DNA damage, DNA repair, mutations