A new approach to breast health screening – incorporating an innovative genetic risk assessment test – is to be made available for the first time to women in the UK. Consultant Breast Surgeon Professor Gordon Wishart, Medical Director of BreastHealth UK, believes that the new service will enable women to choose personalised screening, appropriate to their individual circumstances.
“It is emerging that breast cancer is not one but a number of different diseases,” says Professor Wishart. “Although genetic testing is still a relatively young technique, when combined with proven methods to elicit life-style and family history factors, it can provide breast surgeons with new insights into detection and prevention of this disease.
“We are offering the deCODE BreastCancer™ test as part of our new ‘BreastHealth Risk Assessment Service’. The results of the test will be presented to patients in consultation with an experienced breast surgeon and the implications fully explained.”
In offering the BreastHealth Risk Assessment Service, BreastHealth UK aims to provide a scientific framework in which to develop individual medical risk management strategies for women. It is hoped that ultimately this will lead to increased survival and quality of life in women who are at high-risk, whilst simultaneously minimising costs, unnecessary screening/treatments, and anxiety in lower-risk women.
The genetic test looks at variations at seven gene sites or SNPs (single nucleotide polymorphisms) that can help determine individual cancer risk. A woman’s chance of getting breast cancer can vary more than six fold because of her genetic inheritance.
Gordon Wishart stresses that our understanding of genetic risk is still in its infancy and the test should not be used in isolation. “By introducing the test within a clinical environment it will be possible to evaluate it with real women and provide the evidence base that is needed for wider adoption of this technology.”
Research published[1] in 2008 revealed that there is a biological distinction between breast cancers that depend on hormones and those that do not. The discovery provides strong evidence that subtypes originate from separate pathways and could guide future research into prevention and treatments for cancer types as different diseases.
Several of the genetic variants examined by the deCODE BreastCancer™ test affect the chance that a breast tumour, if it arises, will be ER+ (estrogen receptor positive) or ER- (estrogen receptor negative). There is increasing evidence that ER+ tumours may be amenable to prevention by drugs such as tamoxifen[2].
Professor Wishart comments: “Calculation of an individual risk will be based on the established Tyrer-Cuzick model and the deCODE BreastCancer™ test. Patients at higher risk may benefit from earlier or more intensive screening, or indeed may consider chemo-prevention. Decisions will be made in consultation with an experienced breast surgeon and patients will have access to a genetic counsellor where necessary.”
The genetic test uses a mouth swab and makes it possible, when combined with supporting life-style and medical and family history factors, to get an accurate personal measure of an individual’s lifetime risk of contracting breast cancer.
It is the first time such a service will be available in the UK.
Further information is available from www.breasthealthuk.com.
The BreastHealth Risk Assessment Service
www.breasthealthuk.com
In offering the BreastHealth Risk Assessment Service, BreastHealth UK aims to provide a scientific framework in which women can develop individual medical risk management strategies. It is hoped that ultimately this will lead to increased survival and quality of life in women who are at high-risk, whilst simultaneously minimising costs, unnecessary treatments, and anxiety in lower risk women.
The BreastHealth Risk Assessment Service comprises the following components:
1. Information video to aid decision making
2. Questionnaire based on Tyrer-Cuzick Algorithm
3. deCODE BreastCancer™ genetic test
4. Presentation of combined results as individual risk score
The Tyrer-Cuzick Algorithm
The Tyrer-Cuzick Algorithm[3] is a risk estimation model for breast cancer in healthy women. It takes into account family history, plus a range of other clinical and epidemiological factors, such as a woman’s menarche and the number of times she has given birth.
In a journal article in Breast Cancer Research and Treatment, published online in 2008, Tyrer-Cuzick was one of only two such tests recommended for use in clinical practise.[4]
deCODE BreastCancer™
The deCODE BreastCancer™ test is a genetic test carried out in a laboratory on a sample of a patient’s DNA. It looks for seven common genetic risk factors that have been shown to contribute to a large proportion of female breast cancers.
The validity of these 7 genetic variants as risk factors for the common forms of breast cancer has been shown in large, multinational studies involving nearly 100,000 breast cancer patients and healthy control subjects.
The risk quotients at each of the 7 markers are multiplied together to give a personal genetic risk score from 0.4- to 4.0-fold relative to the average score of 1. About 5% of women have a 2-fold risk for breast cancer compared to the average and about 1% have a 3-fold risk according to the test results only. This translates for white women to a lifetime risk of 20% and 30%, respectively, versus the average risk of 10%. The test does not explain risk due to family history.
The test also predicts the likelihood of any cancer that does occur being oestrogen receptor-positive (ER positive). It is thought that tamoxifen is only effective against ER-positive tumours.
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[1] Pharoah PDP, Antoniou AC, Easton DF, and Ponder BAJ. Polygenes, Risk Prediction, and Targeted Prevention of Breast Cancer. NEJM 2008; 358: 2796-2803.
[2] Research published by Royal Marsden Hospital February 2007 following 20 year trial
[3] Jonathan Tyrer, Stephen W. Duffy, Jack Cuzick, A breast cancer prediction model incorporating familial and personal risk factors. Statistics in Medicine, 2004, 23(7) 1111-1130
[4 ] Catharina E. Jacobi, Geertruida H. de Bock, Bob Siegerink and Christi J. van Asperen, Differences and similarities in breast cancer risk assessment models in clinical practice: which model to choose? Breast Cancer Research and Treatment, 30 May 2008 (Epub ahead of print)
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For further information please contact:
For BreastHealth UK
Helen Goldrein/Rachel Holdsworth, PR consultants
Holdsworth Associates
Tel: 01954 202789 Email: helen@holdsworth-associates.co.uk
