Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence
| العنوان: | Mutational signatures in esophageal squamous cell carcinoma from eight countries with varying incidence |
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| المؤلفون: | S M Ashiqul Islam, Irina I. Abnizova, James McKay, Yudou He, Estelle Chanudet, Behnoush Abedi-Ardekani, Dariush Nasrollahzadeh, Michael Eden, Alisa M. Goldstein, Jon W. Teague, Blandina T. Mmbaga, Nan Hu, Karl Smith-Byrne, Sandra Perdomo, Jingwei Wang, Christine Carreira, Jean-Yves Scoazec, Rebecca C. Fitzgerald, Luis Felipe Ribeiro, Michael R. Stratton, Samad Gharavi, Sergey Senkin, Erik N Bergstrom, Hiva Saffar, Sarah Moody, Sheila Coelho Soares-Lima, Pauline E Bucciarelli, Stefano Serra, Ghislaine Scelo, Charles Dzamalala, Valerie McCormack, Reza Malekzadeh, Hossein Poustchi, Valerie Gaborieau, Lia S Campos, Joshua R. Atkins, Paul Brennan, Emily Thomas, David T. Jones, Paul Richman, Farid Azmoudeh-Ardalan, Masoud Sotoudeh, Ahmadreza Niavarani, Tatsuhiro Shibata, Calli Latimer, Stephen Fitzgerald, Ludmil B Alexandrov, Ricardo Cortez Cardoso Penha, Abdolreza Fazel, Laura Humphreys, Azhar Khandekar, Arash Nikmanesh, Diana Menya |
| المصدر: | Nature Genetics. 53:1553-1563 |
| بيانات النشر: | Springer Science and Business Media LLC, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Adult, Male, APOBEC, China, Esophageal Neoplasms, Apolipoprotein B, Iran, Biology, medicine.disease_cause, Genome, Esophageal squamous cell carcinoma, Germline, 03 medical and health sciences, 0302 clinical medicine, Epidemiology of cancer, Genetics, medicine, Humans, APOBEC Deaminases, Aged, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, Mutation, Whole Genome Sequencing, Aldehyde Dehydrogenase, Mitochondrial, Incidence, Incidence (epidemiology), Middle Aged, United Kingdom, digestive system diseases, 3. Good health, 030220 oncology & carcinogenesis, biology.protein, Cancer research, Female, Esophageal Squamous Cell Carcinoma, Tumor Suppressor Protein p53, Brazil |
| الوصف: | Esophageal squamous cell carcinoma (ESCC) shows remarkable variation in incidence that 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. Mutational profiles 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 differences in ESCC incidence. Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like (APOBEC)-associated mutational signatures single-base substitution (SBS)2 and SBS13 were present in 88% and 91% of cases, respectively, and accounted for 25% of the mutation burden on average, indicating that APOBEC activation is a crucial step in ESCC tumor development. |
| تدمد: | 1546-1718 1061-4036 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66b1022f330ee49ffe06d2fa49c29076 https://doi.org/10.1038/s41588-021-00928-6 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....66b1022f330ee49ffe06d2fa49c29076 |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 15461718 10614036 |
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