Scientists help narrow the search for BRCA1 carriers

Aug 30 2005

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."