| Autor: |
Jean-Yves Scoazec, S M Ashiqul Islam, Irina I. Abnizova, Diana Menya, Paul Richman, Dariush Nasrollahzadeh, Michael R. Stratton, Charles Dzamalala, Sergey Senkin, Karl Smith-Byrne, Hiva Saffar, Pauline E Bucciarelli, Christine Carreira, Sarah Moody, Michael Eden, Paul Brennan, Yudou He, Lia S Campos, Azhar Khandekar, Erik N. Bergstrom, Arash Nikmanesh, Abdolreza Fazel, Ghislaine Scelo, Valerie Gaborieau, Farid Azmoudeh-Ardelan, Calli Latimer, Ricardo Cortez Cardoso Penha, Laura Humphreys, Stefano Serra, Jon W. Teague, Tatsuhiro Shibata, Ludmil B. Alexandrov, Estelle Chanudet, Masoud Sotoudeh, Jingwei Wang, Blandina T. Mmbaga, Valerie McCormack, Reza Malekzadeh, Rebecca C. Fitzgerald, Joshua R. Atkins, David T. Jones, Sandra Perdomo, Emily Thomas, Luis Felipe Ribeiro, Alisa M. Goldstein, Stephen Fitzgerald, Behnoush Abedi-Ardekani, James McKay, Nan Hu |
| Rok vydání: |
2021 |
| Předmět: |
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| DOI: |
10.1101/2021.04.29.21255920 |
| Popis: |
Esophageal squamous cell carcinoma (ESCC) shows a remarkable variation in incidence which is not fully explained by known lifestyle and environmental risk factors. It has been speculated that an unknown exogenous exposure(s) could be responsible. Here we combine the fields of mutational signature analysis with cancer epidemiology to study 552 ESCC genomes from eight countries with varying incidence rates. The mutational profiles of ESCC were similar across all countries studied. Associations between specific mutational signatures and ESCC risk factors were identified for tobacco, alcohol, opium and germline variants, with modest impacts on mutation burden. We find no evidence of a mutational signature indicative of an exogenous exposure capable of explaining the differences in ESCC incidence. APOBEC associated mutational signatures SBS2 and SBS13 were present in 88% and 91% of cases respectively and accounted for a quarter of the mutation burden on average, indicating that activation of APOBEC is a crucial step in ESCC tumor development. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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