Cancer Research UK scientists have identified a new test which may help narrow the search for breast cancer patients likely to carry the faulty BRCA1 gene.

A study published in Clinical Cancer Research* reveals that by testing for markers in biopsy material scientists were able to predict more accurately than before, patients at higher risk of carrying the faulty BRCA1 gene.

Currently women are only offered genetic testing when there is a very strong family history of breast cancer. However, women who do not know their family history will be unaware of their family’s BRCA1 gene status.

Cancer Research UK scientists from Cambridge, Leeds and Manchester were part of a worldwide collaborative study. The researchers tested over 200 breast tumours for a specific marker and found 56 per cent of all BRCA1 gene carriers tested positive for it.

Breast cancer patients who carry the BRCA1 gene have a 50 per cent risk of developing a second breast cancer, and there is also a 40 per cent risk of developing ovarian cancer.

BRCA1 gene carriers can opt for a double mastectomy and/or removal of their ovaries to reduce the risk of future breast and ovarian cancers.

Researcher, Professor Doug Easton from Cancer Research UK’s Genetic Epidemiology Unit in Cambridge says: “Many women who don’t know their family history of breast cancer can be anxious about their children’s risk when diagnosed. We hope that this novel marker test can be further developed to identify more patients in the future who should consider genetic testing but who do not fit the current criteria set out by the National Institute for Health and Clinical Excellence (NICE) guidelines.”

Martin Ledwick, Cancer Information Nurse Manager at Cancer Research UK says: “The current criteria for referral for BRCA gene testing requires a strong family history on one side of the family and various other factors. This does assume that cancer is discussed in families, which is not always the case. Breast cancer patients with insufficient family history who are worried about carrying a faulty gene may potentially benefit themselves and their daughters from this test in the future.”


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*Clinical Cancer Research Vol 11(14), pages 5175”5180.

BRCA genes

Faults in the BRCA1 gene are linked to defects in repairing DNA damage. Women who carry a faulty BRCA1 gene have an 80 per cent chance of developing breast or ovarian cancer during their whole lifetime.

The affected family members that ‘count’ towards the risk must be close blood relatives and must all be from the same side of the family (either mother’s relatives or father’s) and must have been diagnosed with breast cancer under the age of 50 years or ovarian cancer at any age. These details are taken from the NICE Clinical Guideline 14, May 2004,, but this is currently under review.

Faults in the breast cancer genes BRCA1 and BRCA2 increase cancer risk because they are both genes that normally protect cells from cancerous changes. So a BRCA gene fault does not mean a person has cancer, or that they will definitely get cancer, but it does mean that breast cancer is more likely to develop than if you did not have the gene fault. Most women with breast cancer do not have a mutated BRCA1 or BRCA 2 gene. Less than 5 per cent of all breast cancer is due to these faulty genes.

Information on breast and ovarian cancer is available on Cancer Research UK’s patient information website, CancerHelp UK