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Study reveals genetic links to common form of leukaemia

04 September 2008

Cardiff University scientists working on a collaborative study have proved that there is a genetic susceptibility to developing chronic lymphocytic leukaemia (CLL), the most common form of leukaemia in the Western world.

Whilst anecdotal evidence has suggested that inherited factors play a role in the development of this type of leukaemia, until now scientists have been unable to prove a genetic basis.

Researchers from Cardiff School of Medicine and The Institute of Cancer Research based in Sutton have found that variation in certain genes do play a part and this will open the way for better treatment of existing patients. It may also lead to preventive medicine for the disease in the future.

Close relatives (siblings, parents or children) of patients with chronic lymphocytic leukaemia have a seven-times higher chance of developing this blood cancer compared with the general population. For many cancers such as breast cancer, part of the familial risk is caused by a single major disease-risk gene - but no such gene exists for this disease.

The new research has confirmed that the inheritance of a number of low-risk genes can explain part of the inherited susceptibility to develop chronic lymphocytic leukaemia. Dr Chris Pepper, School of Medicine worked closely with The Institute of Cancer Research comparing DNA from chronic lymphocytic leukaemia patients with DNA from a healthy group. They have found six genes with variations in their genetic sequences that are strongly associated with the development of the disease.

Dr Chris Pepper, School of Medicine’s Department of Haematology said: "This research provides strong evidence that chronic lymphocytic leukaemia, in at least some cases, is caused by a combination of different genetic variations which are inherited. Each of these variations, by itself, has a very small effect on the risk of developing this leukaemia, but when all of them are present there is a significantly increased risk of leukaemia. Now that we have this evidence we can carry out studies to determine exactly how the different genes contribute to this risk. "

The study was principally funded by Leukaemia Research with additional funding from Cancer Research UK and carried out in The Institute of Cancer Research.

Leukaemia Research currently funds more than £700,000 of research into blood cancers in Cardiff University.

Dr David Grant, Scientific Consultant at Leukaemia Research, says: "This finding is very exciting as it carries the possibility of improving treatments for individuals who we know are at risk of developing this leukaemia. Clinical applications are still a little while away but this is a very important step forward in understanding the basis of this common leukaemia."


Notes to Editors:

1. The report is published online in the journal Nature Genetics under the title 'A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia'. Corresponding author: Dr Richard Houlston, Institute of Cancer Research, Sutton, Surrey.

2. Leukaemia Research provided principal funding for the study. Additional funding was provided by CLL Global Research Foundation, Cancer Research UK, the Arbib fund, and the European Union. Author Dalemari Crowther-Swanepoel (DC-S) was in receipt of a PhD studentship from The Institute of Cancer Research.

3. Chronic lymphocytic leukaemia is a slowly progressing form of leukaemia, characterised by an increased number of white blood cells known as lymphocytes. With about 2,750 new cases occurring each year in the UK, it is the most common form of leukaemia and occurs predominantly in late middle age onwards. It has variable symptoms and course, but may be diagnosed by chance before the patient develops any clinical symptoms of the disease.

The Institute of Cancer Research

The Institute of Cancer Research is Europe's leading cancer research centre with expert scientists working on cutting edge research. It was founded in 1909 to carry out research into the causes of cancer and to develop new strategies for its prevention, diagnosis, treatment and care. For more information visit: The Institute is a charity that relies on voluntary income. The Institute is one of the world's most cost-effective major cancer research organisations with over 950p in every £ of total income directly supporting research.

Leukaemia Research

Leukaemia Research is the only national charity devoted exclusively to improving treatments, finding cures and learning how to prevent leukaemia, Hodgkin's and other lymphomas, myeloma and the related blood disorders, diagnosed in 24,500 people in the UK every year.

Cancer Research UK

• Together with its partners and supporters, Cancer Research UK's vision is to beat cancer.

• Cancer Research UK carries out world-class research to improve understanding of the disease and find out how to prevent, diagnose and treat different kinds of cancer.

• Cancer Research UK ensures that its findings are used to improve the lives of all cancer patients.

• Cancer Research UK helps people to understand cancer, the progress that is being made and the choices each person can make.

• Cancer Research UK works in partnership with others to achieve the greatest impact in the global fight against cancer.

For further information about Cancer Research UK's work or to find out how to support the charity, please call 020 7121 6699 or visit

Cardiff University

Cardiff University is recognised in independent government assessments as one of Britain’s leading teaching and research universities. It is also ranked as one of the world’s top 100 universities by the Times Higher Education Supplement (THES). 2008 marks the 125th anniversary of Cardiff University having been founded by Royal Charter in 1883. Today the University combines impressive modern facilities and a dynamic approach to teaching and research. The University’s breadth of expertise in research and research-led teaching encompasses: the humanities; the natural, physical, health, life and social sciences; engineering and technology; preparation for a wide range of professions; and a longstanding commitment to lifelong learning.

Cardiff is a member of the Russell Group of the UK’s leading research universities. Visit the University website at:

Cardiff School of Medicine

Cardiff University’s School of Medicine is a significant contributor to healthcare in Wales, a major provider of professional staff for the National Health Service and an international centre of excellence for research delivering substantial health benefits locally and internationally. The School is an international leader in basic and clinically applied research activities and scored highly in the most recent Government Research Assessment Exercise. School of Medicine researchers annually win tens of millions of pounds in research awards to work with Government, the healthcare industries and the charitable sector on the most pressing issues of human health.

Further Information:

For more information about the study contact:

Dr Chris Pepper

School of Medicine

T: 02920 687 077

M: 07950 334068


For more media information contact:

Lowri Jones

Public Relations and Communications

Cardiff University

T: 02920 870 995