Women in their 30s will be offered gene test to check risk of breast cancer

13 April 2012

Blood test: A blood sample could alert doctors to breast cancer 'risk genes' (file picture)


Women could soon be offered a genetic test in their 30s to determine their chances of developing breast cancer.

If found to be at high risk, they could benefit from regular X-rays or MRI scans designed to detect the disease at an early stage.

A report published yesterday suggests that the technology for the test has been developed.

But health chiefs need to decide if it is cost-effective to provide such a test on a regular basis, said Dr Paul Pharoah, from Cambridge's Department of Oncology and Public Health.

He added: 'This approach would also identify a 55-year-old woman with a low chance of breast cancer who possibly wouldn't need such regular checks.

'At present, women are given genetic tests for breast cancer on the Health Service only if they have a very strong family history of the disease.'

The primary genes involved include BRCA1 and BRCA2, but they occur only rarely in the general population and account for around 5 per cent of almost 46,000 breast cancer cases a year in the UK.

The latest research, funded by Cancer Research UK, analysed the effect of seven common 'modest risk' gene variants which increase the likelihood of developing breast cancer.

Together they add up to more than 2,000 possible combinations of genotypes that result in varying levels of breast cancer risk.

This can be 50 per cent lower than the 'norm', meaning the lifetime risk of breast cancer would be 4.2 per cent as compared with a population average of 9.4 per cent.

But the highest level could mean a lifetime risk of 23 per cent  -  two-and-a-half times the average.

The latest study was published yesterday in the New England Journal of Medicine.

Professor Pharoah said genetic testing could be offered to women in their 30s, enabling them to have a personalised risk profile that would lead to a tailored screening programme when they reached their 40s.

The NHS Breast Cancer Screening Programme provides free mammography checks for all women aged 50 to 70 every three years.

But women at higher than 'normal' risk might need annual checks from the age of 40, said Professor Pharoah.

He said: 'This is about fine-tuning the screening that could help early diagnosis in these women.

'The blood test is relatively simple, the technology is already here, but it's about whether women and society think this is the right approach and it's a difficult question to answer. Some may say it's not acceptable.

'The NHS is not set up for widespread genetic testing but a more personalised risk assessment could mean prevention expenditure is more wisely targeted,' he added.

Lead author of the study, Professor Sir Bruce Ponder, director of the charity's Cambridge Research Institute at Cambridge University, said: ' It is very exciting to see workable and affordable approaches to genetic screening for breast cancer on the horizon.

'We expect such technology to develop very fast in the next decade so it's important that we start thinking about how best to apply these advances.'

Dr Lesley Walker, of Cancer Research UK, said: 'This study marks the potential for a tailormade approach to screening for breast cancer which could radically change who we target and how we detect early signs of the disease.'


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