Genetics and cell biology

Somatic Mutation Mechanisms

team-item

Group Leader

Irene Franco

MORE

Exposure to exogenous and endogenous mutagens results in the daily accumulation of somatic mutations in every cell of the body. The consequent loss of genomic integrity is recognized as the leading force in malignant transformation. Despite this important role, our understanding of ongoing mutagenic processes in healthy tissues and cell types is limited.

Research Activity

Our research focuses on somatic mutagenesis in normal tissues, in particular, in pre-cancerous kidney cells. Through analysis of somatic cells taken from human kidneys as well as the use of mouse models, we are investigating molecular mechanisms that may lead to an excessive accumulation of somatic mutations. In particular, through a multidisciplinary approach that combines cellular biology and genomics, we are evaluating whether changes in cellular metabolism may promote mutagenesis and consequently act as a very early trigger of cellular transformation. In addition, we are exploring somatic mutagenesis in kidney samples from patients with inherited diseases that cause cancer predisposition and polycystic kidney disease. Results obtained by these studies are expected to provide a better understanding of kidney cancer initiation and possible strategies for prevention of kidney tumors and cysts in individuals at risk.

Click here to view our publications