Breast Cancer in Sub-Saharan Africa: Uncovering Genetic Risk Factors
Researchers from Wits University and the South African National Cancer Registry conducted a genome-wide association study to identify genetic risk factors for breast cancer in a sub-Saharan African population. The study, which compared genetic variation between women with breast cancer and those without, identified two genetic variants close to the RAB27A and USP22 genes that contribute to the risk of breast cancer in South African black women. These variants have not been previously found to be associated with breast cancer in non-African populations, highlighting the importance of population-specific genetic research.
Key Takeaways:
- The study, which included 2,485 women with breast cancer and 1,101 without, found two genetic variants associated with breast cancer risk in South African black women.
- These variants occur around genes involved in breast cancer cell growth, metastasis, and tumor growth.
- The study applied polygenic risk scores to the African dataset and found that the risk score was less able to predict breast cancer in the African population compared to a European population.
- The results of the study underscore the need for greater research efforts and increased participation from sub-Saharan Africa.
- Larger breast cancer genetic studies have been conducted in other populations, but none have included representation from the African continent.
- Applying European-derived polygenic risk scores did not accurately predict breast cancer in the African dataset and performed worse than in non-African datasets.
Statistics:
- The study compared genetic variation in 2,485 women with breast cancer and 1,101 without.
- The analysis used a DNA chip specially designed by the H3Africa consortium to capture genetic variants within African populations.
- The risk variants identified in the study have not been previously found to be associated with breast cancer in non-African populations.
- The polygenic risk score used in the study was based on risk variants from a European population.
- The study found that the USP22 gene variant contributes to the risk of breast cancer in South African black women.
- The study also found that the RAB27A gene variant contributes to the risk of breast cancer in South African black women.
- Breast cancer claims more than 650,000 lives worldwide each year.
- Survival rates for breast cancer are as high as 90% in high-income countries, but less than 40% in sub-Saharan Africa.
- The incidence of breast cancer in sub-Saharan Africa has increased by 247% from 1990 to 2019.
- The highest incidence of breast cancer was recorded in Nigeria.
Sources:
- Researchers from Wits University and the South African National Cancer Registry.
- The study is a collaboration between Wits University, Sydney Brenner Institute for Molecular Bioscience, and the South African National Cancer Registry.
- The H3Africa consortium.
- The Johannesburg Cancer Study.
- The Africa Wits-INDEPTH Partnership for Genomic Research study.
- The Confluence global study of the genetics of breast cancer.
- A recent study published in [no specific publication mentioned].
- Daily News.