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Genetic test could give women a more accurate breast cancer risk when combined with standard screening

New research shows a promising genetic test, when combined with mammograms, could provide a more accurate breast cancer risk in women attending routine breast cancer screening.

Breast cancer is the most common type of cancer in the UK, with around one in eight women diagnosed during their lifetime.

Each year more than two million women have breast cancer screening in the UK, with women aged between 50 and 70 invited for screening every three years. During screening, two x-rays of each breast are taken, which are called mammograms. In some women, the test picks up something even though they don’t have breast cancer. This is called a false positive result and can lead to anxiety and further tests such as a breast biopsy.

Research, led by Professor Gareth Evans, Cancer Prevention and Early Detection Lead at the NIHR Manchester BRC, has published findings in JAMA Oncology Journal on the effectiveness of the SNP18 genetic test as a more accurate predictor of breast cancer.

Researchers found that when the  SNP18 genetic test is combined with mammograms and risk assessment questionnaire, it provides a more accurate risk analysis and can accurately identify women who may benefit most from preventive therapy or additional screening.

The test assesses breast cancer risk based on genetic variations (single nucleotide polymorphisms, SNPs) in an individual’s DNA. A previous research study, in a smaller group of women with a family history of breast cancer, found that mutations of 18 SNPs were indicative of breast cancer risk for women who did not carry BRCA1/2 mutations.

“These findings are important to help us further develop breast cancer screening methods for women. Routinely incorporating the SNP18 test into our risk-prediction models will provide women attending routine screening a more informative risk estimate prediction. Not only will this allow medical teams to provide more personalised prevention and early-detection treatment pathways in the future, but it has the potential to bring cost savings to the NHS through the improved accuracy of the test.

Gareth Evans, Professor/Consultant in Medical Genetics and Cancer Epidemiology at The University of Manchester and Saint Mary’s Hospital

Going forward researchers in the NIHR Manchester BRC will continue to develop more personalised screening strategies to identify cancer sooner and help match an individual to the treatment most likely to work for them and in some cases prevent conditions progressing into cancer.