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Researchers find cancer mutations in unexplored genome area





Cancer is caused with the apparition of mutations in a few genes affecting the regular functioning of cells and cause tumour transformation. The type of mutation determines the evolution of the tumour, as well as its response to the treatment with specific drugs. Therefore, there is a strong need to find the mutations causing such transformation.

A consortium of researchers from the Ontario Institute for Cancer Research, the Hospital for Sick Children in Toronto, Hospital Clínic – IDIBAPS and the University of Barcelona, and the University Institute of Oncology of the University of Oviedo, could decipher regions that were previously unexplored in the genome of tumour cells. This analysis enabled identifying two different mutations in the same place of the genome, one of them present in chronic lymphatic leukaemia and other tumours, and the other present in more than 50% cases of a type of medulloblastoma.

The new bioinformatics methodology made the analysis of each mutation possible. The study, which describes for the first time the relevance of these unexplored areas of the genome in tumour development, has been published in the journal Nature.

Unlike mutations identified so far, which affected genes coding proteins, these identified mutations in these studies are affecting a small gene which does not code protein. However, this gene, named U1-snRNA, contributes to the growth of most of the expressed genes in the cell, so these mutations have a waterfall effect affecting several molecular mechanisms involved in the apparition and evolution of cancer.

Participants in the study are Lincoln Stein, director of Adaptive Oncology in the Ontario Institute for Cancer Research; Michael Taylor, from the Department of Paediatric Neurosurgery and Biology of Stem Cell Development in the Toronto Hospital for Sick Children; Elías Campo, director of IDIBAPS, director of Research at Hospital Clínic and professor of Pathological Anatomy at the UB, and Xose S Puente, researcher at IUOPA and professor of Biochemistry and Molecular Biology at the University of Oviedo. This study was possible thanks to the funding provided by the La Caixa Banking Foundation, the Center for Biomedical Research Network in Oncology (CIBERONC) and the Carlos III Health Institute.

Further information


Article reference:

Shuai, S.; Suzuki, H.; Díaz-Navarro, A.; Nadeu, F.; Kumar, S. A.; Gutiérrez-Fernández, A.; Delgado, J.; Pinyol, M.; López-Otín, C.; Puente, X. S.; Taylor, M. D.; Campo, E., y Stein, L. D.

«The U1 spliceosomal RNA is recurrently mutated in multiple cancers». Nature, octubre de 2019. DOI:




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