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Male breast cancer-causing gene found


Sunday 23 September 2012


The world’s largest study into the causes of male breast cancer has found a gene that can increase the risk of the disease by up to 50 per cent. This could lead to new treatments specifically for men with breast cancer. The results are published today in Nature Genetics.


Scientists from the Breakthrough Breast Cancer Research Centre at The Institute of Cancer Research, London, carried out the Genome-Wide Association Study (GWAS) of 823 male breast cancer patients – mainly from the UK – and investigated 447,000 genetic changes. The results were then confirmed in a further 438 patients.


Their crucial finding was that changes in the RAD51B gene – which is involved in repair of damaged DNA – can raise a man’s breast cancer risk by as much as 50 per cent (although the absolute risk of breast cancer in men with this faulty gene remains low). Changes in a different part of RAD51B have been shown to raise risk of breast cancer in women.


Around 350 men are diagnosed with breast cancer in the UK each year, making it rare compared with the 48,000 women who develop the disease.


Study author Dr Nick Orr, a team leader in the Breakthrough Breast Cancer Research Centre at The Institute of Cancer Research (ICR) said: “This study represents a leap forward in our understanding of male breast cancer. It shows that while there are similarities with female breast cancer, the causes of the disease can work differently in men. This raises the possibility of different ways to treat the disease specifically for men.”


The Male Breast Cancer Study, from which these results were drawn, is the world’s largest study into the causes of breast cancer in men. It is a collaboration between Breakthrough Breast Cancer, the ICR and cancer investigators around the UK and several other countries. There are currently more than 900 men participating from across England and Wales as well as hundreds from other countries. The causes of male breast cancer are poorly understood but it is known that faulty BRCA2 genes are involved in around 10 per cent of cases – a much higher proportion than in women.


Another aim of the Male Breast Cancer Study is to help to understand the causes of the disease in women. Genes that are found to be strongly linked with the disease in men may also play an important role in women.


Professor Anthony Swerdlow, co-leader of the Male Breast Cancer Study and professor of epidemiology at The Institute of Cancer Research, said: “Male breast cancer is rare, which makes it difficult to study. Through drawing on many hundreds of patients from this country and abroad, we can now start to unravel its causes. We will be continuing this research to try to find more genes that raise the risk of male breast cancer, in order to understand better the causes of this disease in men, and in women.”



Media Contact: PR Manager Tatjana Trposka 0207 153 5312


About Breakthrough Breast Cancer:

  • Breakthrough Breast Cancer’s vision is a future free from the fear of breast cancer.
  • Breakthrough Breast Cancer is dedicated to improving and saving lives through finding the causes of breast cancer, enabling early detection, ensuring precise diagnosis, discovering new and better treatments and improving medical services.  
  • The charity funds ground-breaking research, campaign for better services and treatments and raise awareness of the signs and symptoms of breast cancer. Through this work the charity believes passionately that breast cancer can be beaten and the fear of the disease removed for good.
  • For more information go to

The Institute of Cancer Research (ICR) is one of the world’s most influential cancer research institutes.

Scientists and clinicians at the ICR are working every day to make a real impact on cancer patients’ lives. Through its unique partnership with The Royal Marsden Hospital and ‘bench-to-bedside’ approach, the ICR is able to create and deliver results in a way that other institutions cannot. Together the two organisations are rated in the top four cancer centres globally.

The ICR has an outstanding record of achievement dating back more than 100 years. It provided the first convincing evidence that DNA damage is the basic cause of cancer, laying the foundation for the now universally accepted idea that cancer is a genetic disease. Today it leads the world at isolating cancer-related genes and discovering new targeted drugs for personalised cancer treatment.

As a college of the University of London, the ICR provides postgraduate higher education of international distinction. It has charitable status and relies on support from partner organisations, charities and the general public.

The ICR’s mission is to make the discoveries that defeat cancer.

For more information visit

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