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More breast cancer patients should receive BRCA1 gene test

February 16th, 2012
by Tania

Patients under the age of 50 who have been diagnosed with triple-negative (TN) breast cancer should be given the chance to be tested for faults in their BRCA1 gene.

A report published in the British Journal of Cancer, on the back of a study carried out by experts at The Institute of Cancer Research, revealed that of around 300 women with TN breast cancer, BRCA1 mutations were present in around 20 per cent of those under 50.

Professor Nazneen Rahman, lead author, said that the findings show that using a simple age criteria for testing will provide a "clear and understandable guide for doctors and women to follow".

The expert added that this should therefore result in more women benefitting from optimised care which is possible through the study of genetic information.

TN breast cancer is diagnosed when a pathology report shows that cells tested negative for estrogen receptors, HER2 and progesterone receptors, with between ten and 20 per cent of cases of disease being in this form.

Currently, the test for the BRCA1 mutation is only given where there is a greater than 20 per cent chance of successful detection because of the costs involved, according to NICE guidance.

The researchers revealed that if the guidelines are changed then this could enable an extra 1,200 tests to be carried out on an annual basis, although the challenge of coping with this extra burden will need to be met.

"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," Professor Rahman added.

Professor Peter Johnson, a chief clinician at Cancer Research UK, said that identifying women and their families with the BRCA1 mutations could help doctors provide targeted screening and tailored treatments to these patients.

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Posted in Industry News, Life Science, Medical Science

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