ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2022
Breast Cancer Risk in Women from Ghana Carrying Rare Germline Pathogenic Mutations.
Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Adjusting for Ascertainment Bias in Meta-Analysis of Penetrance for Cancer Risk.Statistics in medicine · 2025Pooled it
- Impact of Distinct Molecular and Immunological Features of Breast Cancer on the Effectiveness of Therapies in Ghana.Breast cancer : basic and clinical research · 2026Review
- Breast Cancer Care in Ghana: A Review of the Continuum of Care and Progress Toward Universal Health Coverage.International journal of breast cancer · 2026Review
- Reclassifying Menopausal Breast Cancer and Assessing Non-Genetic Risk Factors in Ghanaian Women: Insights from a Cohort Study.Cancers · 2025Article
- Adapting the BOADICEA breast and ovarian cancer risk models for the ethnically diverse UK population.British journal of cancer · 2025Article
- Application of genetic testing criteria for hereditary breast cancer in South Africa.Breast cancer research and treatment · 2025Article
- Genetic and Nongenetic Risk Factors for Breast Cancer Risk Estimation.JAMA network open · 2025Observational
- Current landscape of cancer genomics research in sub-Saharan Africa - a review of literature.Frontiers in oncology · 2025Review
- Translational breast cancer research : a journal focusing on translational research in breast cancer · 2025Review
- Targeted gene panel sequencing of liquid and tissue biopsies reveals actionable genomic alterations in Ghanaian metastatic breast cancer cases.Translational oncology · 2024Article
- Protein-truncating and rare missense variants inJournal of medical genetics · 2024Article
- Drivers of breast cancer and cervical cancer screening among women of reproductive age: insights from the Ghana Demographic and Health Survey.BMC cancer · 2024Article
- Wasm-iCARE: a portable and privacy-preserving web module to build, validate, and apply absolute risk models.JAMIA open · 2024Article
- Meta-Analysis of Breast Cancer Risk for Individuals with PALB2 Pathogenic Variants.medRxiv : the preprint server for health sciences · 2024Article
- Age-specific breast and ovarian cancer risks associated with germlineThe Lancet regional health. Western Pacific · 2024Article
- Mosquito control exposures and breast cancer risk: analysis of 1071 cases and 2096 controls from the Ghana Breast Health Study.Breast cancer research : BCR · 2023Article
- Wasm-iCARE: a portable and privacy-preserving web module to build, validate, and apply absolute risk models.ArXiv · 2023Article
- Genetic contribution of breast cancer genes in women of black African origin.Frontiers in genetics · 2023Review
Corrections and comments
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Authors and funding
34 authors at 12 institutions in 4 countries.
Funding
Abstract
backgroundRisk estimates for women carrying germline mutations in breast cancer susceptibility genes are mainly based on studies of European ancestry women.
methodsWe 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.
resultsThe 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.
conclusionsWe 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.
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