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PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2

التفاصيل البيبلوغرافية
العنوان: PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2
المؤلفون: Pablo Bousquets-Muñoz, Ander Díaz-Navarro, Ferran Nadeu, Ana Sánchez-Pitiot, Sara López-Tamargo, Shimin Shuai, Milagros Balbín, Jose M. C. Tubio, Sílvia Beà, Jose I. Martin-Subero, Ana Gutiérrez-Fernández, Lincoln D. Stein, Elías Campo, Xose S. Puente
المصدر: Scopus
RUO. Repositorio Institucional de la Universidad de Oviedo
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سنة النشر: 2021
مصطلحات موضوعية: Genetics, Molecular Biology, Genetics (clinical)
الوصف: Current somatic mutation callers are biased against repetitive regions, preventing the identification of potential driver alterations in these loci. We developed a mutation caller for repetitive regions, and applied it to study repetitive non protein-coding genes in more than 2200 whole-genome cases. We identified a recurrent mutation at position c.28 in the gene encoding the snRNA U2. This mutation is present in B-cell derived tumors, as well as in prostate and pancreatic cancer, suggesting U2 c.28 constitutes a driver candidate associated with worse prognosis. We showed that the GRCh37 reference genome is incomplete, lacking the U2 cluster in chromosome 17, preventing the identification of mutations in this gene. Furthermore, the 5′-flanking region of WDR74, previously described as frequently mutated in cancer, constitutes a functional copy of U2. These data reinforce the relevance of non-coding mutations in cancer, and highlight current challenges of cancer genomic research in characterizing mutations affecting repetitive genes.
تدمد: 2056-7944
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::779db51463f337c2f8607f8a9face0d9
https://pubmed.ncbi.nlm.nih.gov/35288589
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....779db51463f337c2f8607f8a9face0d9
قاعدة البيانات: OpenAIRE
الوصف
تدمد:20567944