Breast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations.
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Authors
Choudhury, Parichoy Pal
Wiafe-Addai, Beatrice
Awuah, Baffour
Yarney, Joel
Edusei, Lawrence
Vanderpuye, Verna
Luccarini, Craig
Baynes, Caroline
Davis Lynn, Brittny C
Yeager, Meredith
Chatterjee, Nilanjan
Nyarko, Kofi
Easton, Douglas F
Figueroa, Jonine D
Publication Date
2022-08-02Journal Title
Cancer Epidemiol Biomarkers Prev
ISSN
1055-9965
Publisher
American Association for Cancer Research (AACR)
Type
Article
This Version
AM
Metadata
Show full item recordCitation
Ahearn, T. U., Choudhury, P. P., Derkach, A., Wiafe-Addai, B., Awuah, B., Yarney, J., Edusei, L., et al. (2022). Breast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations.. Cancer Epidemiol Biomarkers Prev https://doi.org/10.1158/1055-9965.EPI-21-1397
Abstract
BACKGROUND: Risk estimates for women carrying germline mutations in breast cancer susceptibility genes are mainly based on studies of European ancestry women. METHODS: We investigated associations between pathogenic variants (PV) in 34 genes with breast cancer risk in 871 cases [307 estrogen receptor (ER)-positive, 321 ER-negative, and 243 ER-unknown] and 1,563 controls in the Ghana Breast Health Study (GBHS), and estimated lifetime risk for carriers. We compared results with those for European, Asian, and African American ancestry women. RESULTS: The frequency of PV in GBHS for nine breast cancer genes was 8.38% in cases and 1.22% in controls. Relative risk estimates for overall breast cancer were: (OR, 13.70; 95% confidence interval (CI), 4.03-46.51) for BRCA1, (OR, 7.02; 95% CI, 3.17-15.54) for BRCA2, (OR, 17.25; 95% CI, 2.15-138.13) for PALB2, 5 cases and no controls carried TP53 PVs, and 2.10, (0.72-6.14) for moderate-risk genes combined (ATM, BARD1, CHEK2, RAD51C, RAD52D). These estimates were similar to those previously reported in other populations and were modified by ER status. No other genes evaluated had mutations associated at P < 0.05 with overall risk. The estimated lifetime risks for mutation carriers in BRCA1, BRCA2, and PALB2 and moderate-risk genes were 18.4%, 9.8%, 22.4%, and 3.1%, respectively, markedly lower than in Western populations with higher baseline risks. CONCLUSIONS: We confirmed associations between PV and breast cancer risk in Ghanaian women and provide absolute risk estimates that could inform counseling in Ghana and other West African countries. IMPACT: These findings have direct relevance for breast cancer genetic counseling for women in West Africa.
Sponsorship
European Commission Horizon 2020 (H2020) Societal Challenges (634935)
Wellcome Trust (203477/Z/16/Z)
Embargo Lift Date
2023-06-02
Identifiers
External DOI: https://doi.org/10.1158/1055-9965.EPI-21-1397
This record's URL: https://www.repository.cam.ac.uk/handle/1810/335899
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