Martincorena Group

Somatic evolution

Somatic mutations accumulate in all cells throughout life. They are responsible for cancer development, some developmental disorders and are believed to contribute to ageing. Yet, despite their critical importance, very little is known about the extent of somatic evolution in normal tissues due to traditional technical limitations. Our group investigates somatic mutation and evolution in healthy tissues and its implications for cancer development and ageing by combining genome sequencing, laser capture microscopy and computational data analysis.

We currently have four main areas of work:

• Characterising somatic mutation in healthy tissues. In collaboration with others, we are charting the extent of somatic mutation and clonal selection across human tissues. This work has implications for understanding the earliest steps to cancer development and inform efforts in early detection.
• Exploring the role of somatic mutation in ageing and disease. The degree of somatic mutation and selection in several tissues raises the question of whether these mutations may contribute to ageing and non-cancer diseases. We have initiated projects to explore this on several diseases.
• Somatic mutation in other species. Somatic mutations are expected to occur in any species but our knowledge of this fundamental phenomenon remains in its infancy outside of humans.
• New experimental and computational methods. We are developing new experimental methods to improve the detection of somatic mutations. We also develop new computational tools to quantify selection in somatic evolution and improve the discovery of cancer genes.