Chromosomal breakpoints in a cohort of head and neck squamous cell carcinoma patients

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.

参考文章(24)
Simona Negrini, Vassilis G. Gorgoulis, Thanos D. Halazonetis, Genomic instability — an evolving hallmark of cancer Nature Reviews Molecular Cell Biology. ,vol. 11, pp. 220- 228 ,(2010) , 10.1038/NRM2858
Hanno Hinsch, Sridhar Hannenhalli, Recurring genomic breaks in independent lineages support genomic fragility. BMC Evolutionary Biology. ,vol. 6, pp. 90- 90 ,(2006) , 10.1186/1471-2148-6-90
Aurora Ruiz-Herrera, Terence J. Robinson, Evolutionary plasticity and cancer breakpoints in human chromosome 3 BioEssays. ,vol. 30, pp. 1126- 1137 ,(2008) , 10.1002/BIES.20829
Robert I. Richards, Fragile and unstable chromosomes in cancer: causes and consequences. Trends in Genetics. ,vol. 17, pp. 339- 345 ,(2001) , 10.1016/S0168-9525(01)02303-4
Steven E Scherer, Donna M Muzny, Christian J Buhay, Rui Chen, Andrew Cree, Yan Ding, Shannon Dugan-Rocha, Rachel Gill, Preethi Gunaratne, R Alan Harris, Alicia C Hawes, Judith Hernandez, Anne V Hodgson, Jennifer Hume, Andrew Jackson, Ziad Mohid Khan, Christie Kovar-Smith, Lora R Lewis, Ryan J Lozado, Michael L Metzker, Aleksandar Milosavljevic, George R Miner, Kate T Montgomery, Margaret B Morgan, Lynne V Nazareth, Graham Scott, Erica Sodergren, Xing-Zhi Song, David Steffen, Ruth C Lovering, David A Wheeler, Kim C Worley, Yi Yuan, Zhengdong Zhang, Charles Q Adams, M Ali Ansari-Lari, Mulu Ayele, Mary J Brown, Guan Chen, Zhijian Chen, Kerstin P Clerc-Blankenburg, Clay Davis, Oliver Delgado, Huyen H Dinh, Heather Draper, Manuel L Gonzalez-Garay, Paul Havlak, Laronda R Jackson, Leni S Jacob, Susan H Kelly, Li Li, Zhangwan Li, Jing Liu, Wen Liu, Jing Lu, Manjula Maheshwari, Bao-Viet Nguyen, Geoffrey O Okwuonu, Shiran Pasternak, Lesette M Perez, Farah JH Plopper, Jireh Santibanez, Hua Shen, Paul E Tabor, Daniel Verduzco, Lenee Waldron, Qiaoyan Wang, Gabrielle A Williams, JingKun Zhang, Jianling Zhou, David Nelson, Raju Kucherlapati, George Weinstock, Richard A Gibbs, None, The finished DNA sequence of human chromosome 12 Nature. ,vol. 440, pp. 346- 351 ,(2006) , 10.1038/NATURE04569
Ilda Patrícia Ribeiro, Francisco Marques, Francisco Caramelo, João Pereira, Miguel Patrício, Hugo Prazeres, José Ferrão, Maria José Julião, Miguel Castelo-Branco, Joana Barbosa de Melo, Isabel Poiares Baptista, Isabel Marques Carreira, Genetic gains and losses in oral squamous cell carcinoma: impact on clinical management Cellular Oncology. ,vol. 37, pp. 29- 39 ,(2014) , 10.1007/S13402-013-0161-5
Susanne M. Gollin, Chromosomal alterations in squamous cell carcinomas of the head and neck: Window to the biology of disease Head and Neck-journal for The Sciences and Specialties of The Head and Neck. ,vol. 23, pp. 238- 253 ,(2001) , 10.1002/1097-0347(200103)23:3<238::AID-HED1025>3.0.CO;2-H
Eunjung Lee, Rebecca Iskow, Lixing Yang, Omer Gokcumen, Psalm Haseley, Lovelace J Luquette, Jens G Lohr, Christopher C Harris, Li Ding, Richard K Wilson, David A Wheeler, Richard A Gibbs, Raju Kucherlapati, Charles Lee, Peter V Kharchenko, Peter J Park, None, Landscape of Somatic Retrotransposition in Human Cancers Science. ,vol. 337, pp. 967- 971 ,(2012) , 10.1126/SCIENCE.1222077
Qian Peng, Pavel A Pevzner, Glenn Tesler, The fragile breakage versus random breakage models of chromosome evolution. PLOS Computational Biology. ,vol. 2, ,(2006) , 10.1371/JOURNAL.PCBI.0020014
William J Murphy, Denis M Larkin, Annelie Everts-van der Wind, Guillaume Bourque, Glenn Tesler, Loretta Auvil, Jonathan E Beever, Bhanu P Chowdhary, Francis Galibert, Lisa Gatzke, Christophe Hitte, Stacey N Meyers, Denis Milan, Elaine A Ostrander, Greg Pape, Heidi G Parker, Terje Raudsepp, Margarita B Rogatcheva, Lawrence B Schook, Loren C Skow, Michael Welge, James E Womack, Stephen J O'brien, Pavel A Pevzner, Harris A Lewin, Dynamics of mammalian chromosome evolution inferred from multispecies comparative maps Science. ,vol. 309, pp. 613- 617 ,(2005) , 10.1126/SCIENCE.1111387