Global mapping of cancers: The Cancer Genome Atlas and beyond.
Carlo Ganini, Ivano Amelio, Riccardo Bertolo, Pierluigi Bove, Oreste Claudio Buonomo, Eleonora Candi, Chiara Cipriani, Nicola Di Daniele, Hartmut Juhl, Alessandro Mauriello, Carla Marani, John Marshall, Sonia Melino, Paolo Marchetti, Manuela Montanaro, Maria Emanuela Natale, Flavia Novelli, Giampiero Palmieri, Mauro Piacentini, Erino Angelo Rendina, Mario Roselli, Giuseppe Sica, Manfredi Tesauro, Valentina Rovella, Giuseppe Tisone, Yufang Shi, Ying Wang, Gerry Melino
Author Information
Carlo Ganini: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy. ORCID
Ivano Amelio: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy. ORCID
Riccardo Bertolo: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Pierluigi Bove: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Oreste Claudio Buonomo: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Eleonora Candi: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Chiara Cipriani: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Nicola Di Daniele: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Hartmut Juhl: Indivumed GmbH, Hamburg, Germany.
Alessandro Mauriello: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Carla Marani: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
John Marshall: Medstar Georgetown University Hospital, Georgetown University, Washington, DC, USA.
Sonia Melino: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Paolo Marchetti: Sant'Andrea Hospital, University of Rome Sapienza, Italy.
Manuela Montanaro: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Maria Emanuela Natale: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Flavia Novelli: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Giampiero Palmieri: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Mauro Piacentini: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Erino Angelo Rendina: Sant'Andrea Hospital, University of Rome Sapienza, Italy.
Mario Roselli: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Giuseppe Sica: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Manfredi Tesauro: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Valentina Rovella: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Giuseppe Tisone: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Yufang Shi: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Ying Wang: CAS Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.
Gerry Melino: Department of Experimental Medicine, Torvergata Oncoscience Research Centre of Excellence, TOR, University of Rome Tor Vergata, Italy.
Cancer genomes have been explored from the early 2000s through massive exome sequencing efforts, leading to the publication of The Cancer Genome Atlas in 2013. Sequencing techniques have been developed alongside this project and have allowed scientists to bypass the limitation of costs for whole-genome sequencing (WGS) of single specimens by developing more accurate and extensive cancer sequencing projects, such as deep sequencing of whole genomes and transcriptomic analysis. The Pan-Cancer Analysis of Whole Genomes recently published WGS data from more than 2600 human cancers together with almost 1200 related transcriptomes. The application of WGS on a large database allowed, for the first time in history, a global analysis of features such as molecular signatures, large structural variations and noncoding regions of the genome, as well as the evaluation of RNA alterations in the absence of underlying DNA mutations. The vast amount of data generated still needs to be thoroughly deciphered, and the advent of machine-learning approaches will be the next step towards the generation of personalized approaches for cancer medicine. The present manuscript wants to give a broad perspective on some of the biological evidence derived from the largest sequencing attempts on human cancers so far, discussing advantages and limitations of this approach and its power in the era of machine learning.
