Breast cancer gene reviewed

September 26, 2002

A review article in this week's issue of The Lancet assesses the impact of BRCA1 gene mutations-known to be strongly associated with an increased risk of breast and ovarian cancer-on the management of patients.

The BRCA1 gene was identified in 1990 and cloned in 1994. Around 1 in 500 to 1 in 800 women have a BRCA1 gene mutation; women with familial breast or ovarian cancer have a germline mutation of the gene, which gives them a lifetime risk of breast cancer of around 50-85%, and ovarian cancer of 15-60%. Although a genetic test for identification of high-risk individuals has been developed, the underlying mechanisms of how inactivation of the BRCA1 gene leads to malignant cell growth is not fully understood.

Paul Harkin and Richard Kennedy from Queens University, Belfast, UK, and colleagues examine the mechanisms that underlie inactivation of BRCA1 and assess how they affect the management of patients, in terms of both primary (eg. Prophylactic surgery such as mastectomy or oopherectomy and preventative use of drug therapy) and secondary cancer prevention strategies (eg. Early identification and treatment of tumours). The authors also assess the potential usefulness of BRCA1 as a prognostic tool and as a predictive marker of response to different classes of drugs.

Richard Kennedy comments: "The association between dysfunction of BRCA1 and the development of cancer emphasises the importance of the application of modern molecular biology to clinical practice. The identification of BRCA1 and the understanding of its role and function have greatly changed patients' management."

Paul Harkin adds: "It will become increasingly important over the next few years to relate clinical findings to the underlying molecular biology of cancer, and to find clinically relevant applications for the discovery of new genes and molecular pathways in the laboratory. Only in this way can innovative cancer treatments be rationally designed and tested."
PRESS CONFERENCE - 0930 H Thursday 26 September at Cancer Research UK, 44 Lincoln's Inn Fields, London WC2A 3PX, UK;
Further information from Cancer Research UK Press Office (see below).

Contact: Kerry Noble, Cancer Research UK Press Office
Science Press, Office,
Cancer Research UK,
Out of hours Mobile: T) 44-705-026-4059.


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