Worldwide Cancer Research Menu

Investigating a cancer syndrome called Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Cancer occurs when something goes wrong to allow certain cells in our bodies to grow and divide in a rapid and uncontrolled manner, forming a tumour. In order to grow so quickly, the cells need more energy than normal. They are able to increase their own metabolism to generate this energy as the cells have internal power houses. Some cancers can be caused by faults in parts of the powerhouse machinery. This is the situation for a certain type of aggressive kidney cancer called Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC). With this condition, genetic mutations in a protein called Fumarate Hydratase cause a fault in the cell's power house machinery, meaning the cells cannot make energy in the normal way. It is not yet understood how these cancer cells are able to cope with the demands for high energy levels without a properly functioning powerhouse and how they compensate. This is therefore the focus of Dr Christian Frezza's Worldwide Cancer Research grant, to understand how the cells adapt. He will be using computer systems and mouse models to carry out his investigations. If scientists could identify the cell's Achilles heel and understand how they compensate, they could then make drugs to block this ability and kill the cancer cells.

Understanding how some people inherit a higher risk of developing kidney cancer

Kidney cancer can run in some families and some people may inherit a gene causing a higher risk of developing kidney cancer from their parents. In some cases the altered gene (e.g. the VHL gene) can be detected and by testing the family doctors can determine who will benefit from cancer screening. However, in most families it is not clear how the risk is passed on and this is the focus of Professor Maher's Worldwide Cancer Research grant. By studying patients with inherited kidney cancer Professor Maher hopes to identify new genes that are responsible and to find out if these are also involved in non-inherited kidney cancers. His findings could be important for identifying those who may be at risk of developing inherited kidney cancer. These people and their close relatives could then be monitored and any cancer caught early when treatment has a much better chance of being successful.