Posts Tagged ‘cancergenomics’


April 23, 2022

the marker paper of the Hartwig Medical Foundation paper.

Pan-cancer whole-genome analyses of metastatic solid tumours
Peter Priestley, Jonathan Baber, Martijn P. Lolkema, Neeltje Steeghs, Ewart de Bruijn, Charles Shale, Korneel Duyvesteyn, Susan Haidari, Arne van Hoeck, Wendy Onstenk, Paul Roepman, Mircea Voda, Haiko J. Bloemendal, Vivianne C. G. Tjan-Heijnen, Carla M. L. van Herpen, Mariette Labots, Petronella O. Witteveen, Egbert F. Smit, Stefan Sleijfer, Emile E. Voest & Edwin Cuppen
Nature volume 575, pages
210–216 (2019)

There have been numerous follow-up papers since.

Also, the Glioma Longitudinal Analysis (GLASS) Consortium datasets, which are publicly accessible via
The first marker paper is here:

Genes, environment, and “bad luck” | Science

March 26, 2017

Genes, environment & bad luck To what degree are #cancer mutations due to replication error (3rd factor), not 1st 2?

discusses R v D correlation

Stem cell divisions, somatic mutations, cancer etiology, and cancer prevention Cristian Tomasetti1,2,*, Lu Li2, Bert Vogelstein3,*
Science 24 Mar 2017:
Vol. 355, Issue 6331, pp. 1330-1334
DOI: 10.1126/science.aaf9011

Classification and characterization of microsatellite instability across 18 cancer types : Nature Medicine : Nature Research

December 4, 2016

"Classification and characterization of
microsatellite instability across 18 cancer types" by Hause,
Pritchard, Shendure and Salipante from Nature Medicine, 2016

Characterization of microsatellite instability across 18 cancer types Classifier finds cancer-associated #MSI loci

Biden unveils launch of major, open-access database to advance cancer research – The Washington Post

June 21, 2016

Biden to unveil…#openaccess DB to advance cancer research Impressive that @VP singled out a bioinformatics project

A New Initiative on Precision Medicine — NEJM

September 8, 2015

A New Initiative on Precision Medicine Notable: focus on #cancergenomics & mention of endophenotypes & #QS data

Francis S. Collins, M.D., Ph.D., and Harold Varmus, M.D.
N Engl J Med 2015; 372:793-795February 26, 2015DOI: 10.1056/NEJMp1500523

“These features make efforts to improve the ways we anticipate, prevent, diagnose, and treat cancers both urgent and promising. Realizing that promise, however, will require the many different efforts reflected in the President’s initiative. To achieve a deeper understanding of cancers and discover additional tools for molecular diagnosis, we will need to analyze many more cancer genomes. ….
The cancer-focused component of this initiative will be designed to address some of the obstacles that have already been encountered in “precision oncology”: unexplained drug resistance, genomic
heterogeneity of tumors, insufficient means for monitoring responses and tumor recurrence, and limited knowledge about the use of drug combinations.

The initiative’s second component entails pursuing research advances that will enable better assessment of disease risk, understanding of disease mechanisms, and prediction of optimal therapy for many more diseases, with the goal of expanding the benefits of precision medicine into myriad aspects of health and health care.

The initiative will encourage and support the next generation of scientists to develop creative new approaches for detecting, measuring, and analyzing a wide range of biomedical information — including molecular, genomic, cellular, clinical, behavioral, physiological, and environmental parameters. Many possibilities for future applications spring to mind: today’s blood counts might be replaced by a census of hundreds of distinct types of immune cells; data from mobile devices might provide real-time monitoring of glucose, blood pressure, and cardiac rhythm; genotyping might reveal particular genetic variants that confer protection against specific diseases…