Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Uganda and Cameroon Women


Sub-Saharan Africa (SSA) has a high proportion of premenopausal hormone receptor negative breast cancer. Previous studies reported a strikingly high prevalence of germline mutations in BRCA1 and BRCA2 among Nigerian breast cancer patients. It is unknown if this exists in other SSA countries.


Breast cancer cases, unselected for age at diagnosis and family history, were recruited from tertiary hospitals in Kampala, Uganda and Yaoundé, Cameroon. Controls were women without breast cancer recruited from the same hospitals and age-matched to cases. A multi-gene sequencing panel was used to test for germline mutations.


There were 196 cases and 185 controls with mean age of 46.2 and 46.6 years for cases and controls, respectively. Among cases, 15.8% carried a pathogenic or likely pathogenic mutation in a breast cancer susceptibility gene: 5.6% in BRCA1, 5.6% in BRCA2, 1.5% in ATM, 1% in PALB2, 0.5% in BARD1, 0.5% in CDH1, and 0.5% in TP53. Among controls, 1.6% carried a mutation in one of these genes. Cases were 11-fold more likely to carry a mutation compared to controls (odds ratio=11.34, 95% confidence interval: 3.44-59.06; P<0.001). The mean age of cases with BRCA1 mutations was 38.3 years compared to 46.7 years among other cases without such mutations (P=0.03).


Our findings replicate the earlier report of a high proportion of mutations in BRCA1/2 among patients with symptomatic breast cancer in SSA.


Given the high burden of inherited breast cancer in SSA countries, genetic risk assessment could be integrated into national cancer control plans.

 2019 Dec 23. pii: cebp.0506.2019. doi: 10.1158/1055-9965.EPI-19-0506. [Epub ahead of print]