Journal
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
Volume 29, Issue 2, Pages 359-367Publisher
AMER ASSOC CANCER RESEARCH
DOI: 10.1158/1055-9965.EPI-19-0506
Keywords
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Funding
- Susan G. Komen for the Cure [SAC110026]
- NIH Commons Credits Pilot Award [CCREQ-00079]
- Breast Cancer Research Foundation [R01 CA228198, U01 CA161032, OT3 OD025458, R01 HG009018, U24 CA209996]
- Department of Energy [DE-AC02-06CH11357]
- Paul Calabresi Career Development Award for Clinical Oncology [K12 CA139160]
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Background: 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 patients with breast cancer. It is unknown if this exists in other SSA countries. Methods: Breast cancer cases, unselected for age at diagnosis and family history, were recruited from tertiary hospitals in Kampala, Uganda and Yaounde, Cameroon. Controls were women without breast cancer recruited from the same hospitals and age-matched to cases. A multigene sequencing panel was used to test for germline mutations. Results: There were 196 cases and 185 controls with a 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 with controls (OR = 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 with 46.7 years among other cases without such mutations (P = 0.03). Conclusions: Our findings replicate the earlier report of a high proportion of mutations in BRCA1/2 among patients with symptomatic breast cancer in SSA. Impact: Given the high burden of inherited breast cancer in SSA countries, genetic risk assessment could be integrated into national cancer control plans.
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