Our new Postdoctoral Research Fellow, Dr Lara Urban, has recently had results from her PhD research in human cancer genomics published in two articles in Nature. These two articles entitled “Genomic Basis for RNA alterations in cancer” and “Pre-cancer analysis of whole genomes” (one first-author and one co-author) constitute integrative analyses of the transcriptome and genome of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) dataset.

This unique dataset comprises whole‑genome sequencing of more than 2,600 primary cancers and their matching normal tissues across 38 cancer types. Cancer as a genomic disease is caused by acquisition of somatic mutations in key cancer genes. These mutations lead to unregulated cellular growth and interactions with the surrounding tissue. Before this study, most cancer genomics research had focused on the mutation in protein-coding genes, which only account for 1% of the entire genome. The PCAWG study was able to identify many new mutations that contribute to cancer progression, and explore the respective molecular mechanisms.

Lara also explored the role of the perturbation of gene expression in cancer tissues, and was able to establish a specific relationship between distinct mutational signatures and dysregulated transcription.

It is hoped that this fundamental study will contribute to a better understanding of cancer.

Well done, Lara!