作者: I.P. Ribeiro , I.M. Carreira , L. Esteves , F. Caramelo , T. Liehr
DOI: 10.1016/J.YGENO.2019.02.009
关键词:
摘要: Abstract Head and neck squamous cell carcinoma (HNSCC) presents complex chromosomal rearrangements , however, the molecular mechanisms behind HNSCC development remain elusive. The identification of recurrent breakpoints could help to understand these mechanisms. Array-CGH was performed in patients involved gene amplification/loss were analyzed. Frequent clustered chromosomes 12p 8p, 3q, 14q, 6p, 4q, Xq 8q. Chromosomes 6 14, 3, 8 X exhibited higher susceptibility have breaks than other chromosomes. We observed that low copy repeat DNA sequences are localized at or flanking breakpoint sites, ranging from 0 200 bp. LINES, SINES Simple Repeats most frequent elements identified regions. conclude our cohort specific peri-centromeric telomeric regions frequently breakpoints, being presence repeats one explanations for common rearrangement events observed.