Dr Paul Pharoah

Department of Oncology, Strangeways Laboratories
University of Cambridge
Cambridge

Genetic variation and cancer risk

Dr Paul Pharoah works at the University of Cambridge, studying how a person's genes, lifestyle and environment interact to determine their cancer risk. In particular, Dr Pharoah is hoping to identify small genetic differences that may affect a person's risk of breast cancer or how they will respond to treatment. He is also investigating the genes and risk factors involved in ovarian cancer.

Listen to Dr Pharoah talking about his research:

Scientists have already found several 'high-risk' genes. For example, mutations in a woman's BRCA1 or BRCA2 genes can greatly increase her risk of breast and ovarian cancers. But these only account for a small proportion of cases.

As well as these rare 'high-risk' genes, scientists have found evidence that a person's cancer risk is also affected by the combined effect of subtle variations in many other genes. These gene variants are often called 'low-risk' or 'low-penetrance' genes.

By identifying these gene variations, it may be possible to assess a person's cancer risk more accurately. People at increased risk could then be offered advice, screening or other treatments to lower their chances of developing the disease.

Breast cancer genetics

Around 7,000 breast cancer patients in East Anglia are taking part in Dr Pharoah's study. By comparing their genetic makeup with that of unaffected people, the team hopes to identify certain gene combinations that increase a woman's risk.

These women could be offered specialist advice and be asked to attend regular screening to detect the disease at an early stage. In 2007, Dr Pharoah helped identify five new genetic regions that slightly increase a woman's risk of breast cancer.

As well as of influencing a person's risk of developing cancer, gene variants may affect the way people respond to cancer treatments.

In future, it may be possible to tailor treatment according to precisely which gene variations a person carries.

Ovarian cancer genetics

Dr Pharoah is also involved in work aimed at identifying women at increased risk of ovarian cancer. He runs the Familial Ovarian Cancer Registry (FOCR), a database of over 400 families with a strong history of ovarian cancer.

This registry is being analysed to see if any common genes and other risk factors can be found. In future, this information will be invaluable to doctors, helping them to provide accurate, tailored advice to people with a family history of the disease. The FOCR is thought to be the largest well-documented set of ovarian cancer families in the world.