Scientists from prof. Piotr Kozlowski’s teampublished a breakthrough study in the field of cancer genetics

We are pleased to inform you that the article of Prof. Kozlowski’s team (Paulina Galka-Marciniak, Martyna Olga Urbanek-Trzeciak, Paulina Maria Nawrocka and Piotr Kozlowski “A pan-cancer atlas of somatic mutations in miRNA biogenesis genes”) published in Nucleic Acids Research (NAR) has been selected by the journal editors as a Breakthrough Article. Breakthrough Articles represent the top of NAR papers in terms of originality, significance, and scientific excellence.

In the study, in over 10,000 TCGA cancer samples, over 3,600 cancer somatic mutations were identified and characterized in 29 genes playing a role in miRNA biogenesis. Some of the genes were overmutated in specific cancers and/or had recurrent hotspot mutations. The authors identified a list of miRNAs (including well-known cancer-related miRNAs) whose level was affected by particular types of mutations in either SMAD4SMAD2, or DICER1 and showed an association of the mutations with patient survival. The study presents a comprehensive atlas of mutations in the miRNA biogenesis genes that may help in understanding the role of the particular genes in cancer, and may also be a useful resource of information for studying the function of these genes.

The article is a part of a larger study and is complementary to the other team’s article published at the end of 2020 in EBioMedicine (Urbanek-Trzeciak Martyna et al. 2020) describing the Pan-cancer analysis of somatic mutations in the miRNA-coding genes.

In this article, the authors, for the first time, have systematically analyzed somatic
mutations in miRNA genes in ~13,000 tumor samples whole exome/genome sequenced in the framework of large cancer genome projects. As the result, they identified and characterized >10,000 miRNA gene mutations in 33 types of cancers. They described dozens of significantly overmutated miRNA genes and hotspot nucleotide positions that are recurrently mutated in particular cancer types or the overall Pan-Cancer dataset and showed that some of these mutations affect miRNA expression, cancer staging, and patient survival as well as occur more frequently in miRNA genes playing role in cancer.

This research was appreciated by the editors of EBioMedicine. In the editorial introductory article, Prof. Hua Tan from the University of Texas Health Science Center at Houston commented on the study as follow: “We are witnessing an era when the whole genome, not just the coding region, is seriously taken into account when studying the causative genetic and epigenetic aberrations of human complex disorders, especially cancer. With increasing focus and effort devoted to the noncoding DNA domain, we are beginning to hear the sound of silence”  (Tan H. EBioMedicine 2020,61:103084).
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