With the discovery of the BRCA1 gene and other genetic mutations associated with breast cancer, it has been established that hereditary mutations account for up to 5% of patients presenting with breast cancer.We performed a systematic review of English Language Literature to determine the role of BRCA1 and BRCA2 gene mutations in African breast cancer patients. PUBMED and AJOL database were searched for publications addressing Breast Cancer and BRCA1 and BRCA2 genes. PUBMED was searched using the following words in various combinations; ‘Breast Cancer’, ‘BRCA1’, ‘BRCA2’, ‘BRCA’, ‘Genes’, ‘Cancer Genes’, and ‘Africa’.16 studies fulfilled the study criteria up till December 2011. The studies were from North Africa (NA) and Sub-Saharan Africa (SSA).A total of 9 studies were found evaluating 752 (352 repeated Zhang J (2010)) patients from SSA. Three studies (144 patients) evaluated all the coding regions of both BRCA1 and BRCA2 while 2 studies (571 patients) evaluated part(s) of BRCA1 and one (20 Patients) evaluated part(s) of BRCA2, one re-evaluated the whole of the BRCA1 gene in a previous sub-set of patients, while one (16 patients) evaluated parts of both BRCA1 and BRCA2.In North Africa, 6 studies evaluated 374 patients, with 4 studies (219 patients) evaluating the whole of the BRCA1 and BRCA2 genes while two (155 patients) studies evaluated only parts of both BRCA1 and BRCA2, with one of the studies evaluating the whole of the BRCA1 gene in a subset (24 patients).Due to this paucity of well powered population based studies evaluating the influence of BRCA genetic mutations in breast cancer patients in Africa, there is a need to perform well powered studies and population screening to determine the impact of germ line mutations in the Breast Cancer patient in Africa before any categorical statements can be made with respect to their BRCA status.
The majority of clinical trials of neo-adjuvant therapy for breast cancer have been conducted in resource-rich countries. We chose Nigeria, a resource-poor country, as the major site for a phase II feasibility open-label multicenter clinical trial designed to evaluate the efficacy, safety, and tolerability of neo-adjuvant capecitabine in locally advanced breast cancer (LABC). Planned treatment consisted of 24 weeks of capecitabine at a dose of 1,000 mg/m2 twice daily (2,000 mg/m2 total per day). The primary endpoints were overall, partial, complete clinical response rate (OCR, PCR, CCR) and complete pathologic response (cPR). A total of 16 patients were recruited from August 2007 to April 2010. The study was terminated early as a result of slow accrual. After the first three cycles of therapy, PCR were seen in five of 16 patients (31%; 95% CI 11–59%). Of the remaining 11 patients, eight had no response (NR) or stable disease (SD), and three had progressive disease (PD). Seven patients proceeded with further therapy of which had SD. OCR at the end of eight cycles was 44% (95% CI 20–70%). Clinical response and radiologic response by ultrasonomammography were highly concordant (spearman correlation 0.70). The most common adverse effect was Grade 1 hand–foot syndrome, which was seen in 75% of patients. Despite several limitations, we successfully carried out this phase II feasibility study of neo-adjuvant capecitabine for LABC in Nigeria. Capecitabine monotherapy showed good overall response rates with minimal toxicity and further studies are warranted.
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