Wednesday 15 February 2012
Leading breast cancer experts are calling for women under 50 who are diagnosed with triple-negative (TN) breast cancer to be offered testing for faults in the BRCA1 gene, according to a report published in the British Journal of Cancer* today.
The researchers – funded by Cancer Research UK and led by scientists at The Institute of Cancer Research – looked at more than 300 women with TN breast cancer** and found BRCA1 mutations in nearly one in five women diagnosed under 50.
But due to the cost of testing for the BRCA1 mutation, NICE guidance recommends that BRCA1 should be offered if the likelihood of detecting a mutation is greater than 20 per cent, although many testing centres offer it if the likelihood is between 10-20 per cent.
Centres use a range of criteria and methods to determine if a patient is eligible for testing. But, this requires specialist knowledge and software and potentially misses hundreds of women a year.
Based on their findings the researchers estimate more than one in three women with TN breast cancer caused by BRCA1 mutations would not have been tested using the current criteria.
Lead author Professor Nazneen Rahman, a Cancer Research UK funded researcher at The Institute of Cancer Research and The Royal Marsden Hospital, said: “Our findings show that women diagnosed with triple-negative breast cancer under 50 should be offered BRCA1 testing. Using a simple age criteria for testing will provide a clear and understandable guide for doctors and women to follow, and should result in many more women benefitting from the optimised care that genetic information makes possible.”
Changing the current testing guidelines could mean an extra 1200 tests a year, which the researchers acknowledge will place an extra burden on current genetic testing services.
Professor Rahman added: “There are hurdles to overcome so that NHS testing services can cope with more BRCA1 testing, but we’re moving towards an era of faster and cheaper genetic testing, so it will soon be possible.”
Women carrying the BRCA1 mutation have a 65 per cent chance of developing breast cancer by the time they’re 70. But, only around one in 900 women in the general population carry a BRCA1 mutation.
Breast cancers with BRCA1 mutations can respond well to treatment with platinum-based drugs, such as carboplatin and cisplatin, and also to radiotherapy. But they can develop resistance to the treatment and start to grow again.
Rowena Kincaid, 36, from Cardiff, was diagnosed with breast cancer in July 2009 after finding a lump. It was confirmed as triple negative and she underwent a lumpectomy followed by four months of chemotherapy and radiotherapy. She is now doing well, is back at work and took part in Race for Life in 2011.
She said: “I am interested to know about the genetic testing, as I know there has been cancer in the family. To be offered the chance to find out if I carry the BRCA1 mutation would not only give me insight to my own disease but also allow me and my family to discuss with our doctors if we carry the mutation what the next steps would be.”
Professor Peter Johnson, chief clinician at Cancer Research UK, said: “It’s important that we identify women and their families who carry BRCA1 mutations. They’re more likely to develop breast and ovarian cancer, so armed with this knowledge doctors can offer targeted screening and tailored treatments to these women.
“The NHS needs to adapt so that tests for BRCA1 can be offered to women who are likely to carry the mutation. This approach will be cost-effective for the NHS in the long-term, leading to a substantial reduction in the number of breast and ovarian cancers by offering preventative treatments for those women and their families who are at greatest risk.”
-ENDS-
Media contact: Simon Shears in the Cancer Research UK press office on 020 3469 8054 or, out-of-hours, the duty press officer on 07050 264 059
Notes to editors
*L. Robertson et al BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years British Journal of Cancer (2012). doi:10.1038/bjc.2012.31.
**Triple negative breast cancer – which doesn’t express oestrogen receptor, progesterone receptor and HER2 – accounts for about 15 per cent of breast cancers. They are more likely to occur in younger women and the most common type for women with BRCA1 mutations.
About the British Journal of Cancer (BJC)
The BJC is owned by Cancer Research UK. Its mission is to encourage communication of the very best cancer research from laboratories and clinics in all countries. Broad coverage, its editorial independence and consistent high standards have made BJC one of the world's premier general cancer journals. www.bjcancer.com
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 www.icr.ac.uk
About Cancer Research UK
- Cancer Research UK is the world’s leading cancer charity dedicated to saving lives through research
- The charity’s groundbreaking work into the prevention, diagnosis and treatment of cancer has helped save millions of lives. This work is funded entirely by the public.
- Cancer Research UK has been at the heart of the progress that has already seen survival rates in the UK double in the last forty years.
- Cancer Research UK supports research into all aspects of cancer through the work of over 4,000 scientists, doctors and nurses.
- Together with its partners and supporters, Cancer Research UK's vision is to beat cancer.
For further information about Cancer Research UK's work or to find out how to support the charity, please call 020 3469 6699 or visit www.cancerresearchuk.org