Statement Of The Breast Interest Group Of Southern Africa Concerning Genetic Testing For Familial Breast
Cancer And Risk Reduction Mastectomy
The Breast Interest Group of Southern Africa is concerned about the hype that has arisen around the recent
publication of Angelina Jolie’s risk reduction mastectomy. We wish to put on record:
• The so-called breast cancer (BRCA) genes 1 and 2 are present in all human beings. When functioning
normally, these genes suppress formation of cancers.
• If the BRCA genes malfunction due to changes called mutations, women have a very high (up to 90%) chance
of suffering breast cancer during their life-times. In women, next to breast cancer, ovarian cancer is a
significant risk. In men, disease-causing mutations of these genes leads to an increased risk of cancer, but in
contrast to women, the pattern of cancers is not well defined: Early and aggressive prostate cancers, colon,
breast, pancreatic cancer and still other cancers have been described.
• Concerned women with a family history of breast cancer and/or ovarian cancer should have their history
assessed by a medical practitioner with a special interest in breast health issues, e.g. a human geneticist or a
surgeon with a specific interest in breast health and be counseled how to manage the risk.
• Testing for BRCA gene abnormalities is reserved for patients properly counseled and at significant chance of
being carriers of a disease-causing mutation.
• Counseling and testing are available in major private and public sector academic centers such as Tygerberg
and Groote Schuur Hospitals in the Western Cape, Helen Joseph and Baragwanath Hospitals in Gauteng and
Albert Luthuli Hospital in Kwa-Zulu Natal. Appropriate testing for common BRCA mutations costs about R
1500 and is funded by medical aids and the public sector; more extensive testing for rare BRCA mutations can
cost up to about R 13000, and is funded in the public sector but not by all medical aids.
• For women being found to be carriers of a disease-causing BRCA mutation, risk-reduction mastectomy will be
considered as one of the management options. Risk-reduction mastectomy with immediate reconstruction is
funded with very few exceptions by the public system as well as by medical aids. We regard this as a wise
employment of public as well as private funds, as the treatment of cancer is traumatic to patients, extremely
costly and its prevention by comparison, cheap.
• As disease-causing BRCA mutations are relatively rare (less than one in a hundred women will carry such a
mutation), BRCA associated breast cancer is relatively rare (about only one in 20 breast cancers is BRCA
related) and counseling, risk management and risk-reduction surgery must be the preserve of specialized
centers.
• As testing is not yet available for disease-causing mutations in genes other than BRCA, a negative BRCA test
does not exclude the presence of a genetic cause for breast cancer. Breast cancer risk management then
becomes a matter of clinical experience and expert counseling of the individual patient.
Professor Justus Apffelstaedt, Chairman of the Breast Interest Group of Southern Africa.
