BRCA mutation detection rate in breast cancer patients at Tygerberg Hospital, Western Cape.
Breast cancer (Demographic aspects)
BRCA mutations (Identification and classification)
Genetic susceptibility (Demographic aspects)
|Publication:||Name: South African Journal of Surgery Publisher: South African Medical Association Audience: Academic Format: Magazine/Journal Subject: Health Copyright: COPYRIGHT 2011 South African Medical Association ISSN: 0038-2361|
|Issue:||Date: April, 2011 Source Volume: 49 Source Issue: 2|
|Geographic:||Geographic Scope: South Africa Geographic Code: 6SOUT South Africa|
Introduction: Breast cancer remains one of the most frequent
tumours in women. BRCA1 and 2 genes play a major role in the hereditary
susceptibility to this disease. In a developing country, lack of
supporting services such as clinical genetics means that surgeons often
have to take the initiative in establishing such services in the
management of breast cancer. We present an audit of testing for
disease-causing BRCA mutations in a diverse patient population of
Afrikaner, Xhosa and mixed ancestry with a high incidence of breast
Method: An audit was conducted for breast cancer patients undergoing BRCA diagnostic testing from March 2005 to November 2010. Initial testing was for 3 Afrikaner 'founder' mutations and occasionally for other common mutations. A subgroup underwent protein truncation testing (PTT) for selected exons. Indications for testing were age <35 years, bilateral breast cancer at any age, multiple family members with breast and/or ovarian cancer, and all male patients with breast cancer.
Results: Of 221 patients tested, 35 (15.7%) had BRCA mutations. Of the 221 patients tested for common mutations, 23 (10.3%) had Afrikaner 'founder' mutations (15 had the BRCA2 8162delG mutation) and 11 had one of the other 'less common mutations'. A positive PTT was observed in only 9 (7%) of 130 patients tested. Four of 13 males tested positive for BRCA mutations.
Conclusion: The 10.3% detection rate for the common mutation testing is good, for the testing criteria applied, and the diverse patient population. The BRCA2 mutation was detected in 7.1% of all patients tested. This study supports the use of non-stringent criteria for common mutation testing even in a diverse population. The increased availability of genetic testing and the potential influences on management of the individual patient make it imperative that surgeons know the indications and implications of genetic testing and are able to apply it in the management of breast cancer in a multidisciplinary setting.
K Baatjes, J Apffelstaedt, M Urban, T Tlolane
Stellenbosch University, W Cape
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