Prof Bruce Ponder

Hunting cancer genes

Professor Sir Bruce Ponder is Director and Professor of Oncology at the Cancer Research UK Cambridge Research Institute. He is world-renowned for his pioneering research into discovering genes that affect our risk of common cancers, particularly breast cancer.

BRCA cancer genes

In the 1990s, Professor Ponder’s team helped track down two genes, BRCA1 and BRCA2 , which affect breast cancer risk.

Women who inherit a faulty copy of BRCA1 or 2 have an 80 per cent chance of developing breast cancer.

The discovery of these genes led to the development of tests to detect faults in them. This allows doctors to identify high-risk individuals and help them, by referring them for counselling and regular screening, and by providing lifestyle advice about cancer prevention.

Professor Ponder is now studying how the BRCA2 gene actually works, and its role in cancer, in collaboration with Professor Tony Kouzarides and Professor Ashok Venkitaraman, both also at the University of Cambridge.

Other breast cancer genes

By studying the way breast cancers can sometimes cluster in families, scientists have been able to estimate the proportion of all breast cancer cases that are linked to our genes.

But the BRCA1 and BRCA2 genes only account for about 20 percent of this total genetic effect, and about 5 per cent of breast cancer cases overall.

So Professor Ponder suspects there are many more risk genes, each with a much weaker effect. A woman would need to inherit several of these ‘low-risk’ genes to significantly increase her lifetime risk of cancer.

A further six genes have since been discovered. However, the combined effect of these new genes explains less than 5 per cent of the inherited contribution to breast cancer. Together with BRCA1 and BRCA2, all of the genes so far identified therefore account for about a quarter of the genes which must be involved.

To track down more genes, Professor Ponder’s team are currently running large studies comparing the DNA of thousands of breast cancer patients with DNA from healthy people. They are aiming to pin-point more subtle genetic variations that may influence cancer risk.

To gain access to large DNA sample collections, he, together with his colleagues Dr Paul Pharoah, and Professor Douglas Easton, has spent 10 years building up a set of several thousand women with breast cancer in East Anglia, who have volunteered to take part in the research. .

Oesophageal cancer genes

Professor Ponder is also hunting for genes further afield. Together with Professor Nicholas Day, and colleagues in France and in Iran, he is also searching for genes and environmental factors which influence oesophageal cancer risk in a large study based in Iran.

Thyroid cancer genes

In 1993, Professor Ponder helped identify a gene, called RET, responsible for an inherited form of thyroid cancer known as ‘multiple endocrine neoplasia 2A’. The discovery has led to successful genetic testing and much better outcomes for individuals at risk in families with this condition