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Seventeen years after BRCA1: what is the BRCA mutation status of the breast cancer patients in Africa? – a systematic review

Lawal AbdulRazzaq Oluwagbemiga1*, Atoyebi Oluwole1 and Adesunkanmi AbdulRasheed Kayode2

Author Affiliations

1 Department of Surgery, College of Medicine of the University of Lagos, Lagos, Nigeria

2 Department of Surgery, College of Health Sciences, Obafemi Awolowo University, Ile Ife, Nigeria

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SpringerPlus 2012, 1:83  doi:10.1186/2193-1801-1-83

Published: 28 December 2012


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.

Breast cancer; Gene mutations; Africa; BRCA1; BRCA2; Systematic review