Breast cancer can be classified into several subtypes, including Luminal A, Luminal B, HER2+, triple-negative, Claudin-low, and Normal-like, based on the presence of progesterone receptor (PR), estrogen receptor (ER), and human epidermal growth factor receptor 2 (HER2) status. The type of breast cancer will determine the appropriate treatment options, such as receptor-targeted treatments, chemotherapy, radiation, and surgery.
Although the majority of studies on breast cancer susceptibility have focused on European and Asian populations, recent research has investigated breast cancer patients from African populations, such as Nigeria, Uganda, Cameroon, and South Africa. A 2022 study from the University of Pretoria identified pathogenic/likely pathogenic variants in 13 patients in 10 different genes, including BRCA1, BRCA2, and PALB2. However, larger scale studies are needed to improve understanding of breast cancer susceptibility in African populations.
BRCA1, BRCA2, and PALB2 are genes that are involved in DNA repair and are known as tumor suppressor genes. Mutations in these genes can lead to a higher risk of developing breast cancer.
In African women, mutations in BRCA1, BRCA2, and PALB2 have been found to be associated with an increased risk of breast cancer, just as in other populations. However, the frequency of these mutations in African women is generally lower than in other populations, such as Ashkenazi Jewish women.
Some studies have suggested that certain BRCA1 mutations may be more common in African women than in other populations, and that these mutations may be associated with a more aggressive form of breast cancer. However, more research is needed to fully understand the role of these genes in breast cancer in African women.
It is important to note that not all cases of breast cancer in African women are caused by mutations in these genes. Other risk factors, such as a family history of breast cancer, hormonal factors, and lifestyle factors, can also play a role in the development of breast cancer
To combat the burden of breast cancer, a multifaceted approach is needed, which includes raising awareness, implementing prevention strategies, promoting health and wellness education, and accelerating scientific discovery and technological advancements. With the increasing affordability of human genome sequencing, future studies in Africa may provide insight into not only breast cancer susceptibility variants but also other inheritable conditions.