Dr Mpoi Makhetha’s research study on breast cancer patients in KwaZulu-Natal (KZN) is believed to be the first study in South Africa reporting on demographic and genetic trends.
She was recently awarded her PhD from the University of KwaZulu-Natal (UKZN).
Her research conducted over 11 years in breast cancer patients in the province is also understood to be the first work on the African continent to investigate methylation signatures in breast tissues of African patients and their association with breast cancer development.
Supervised by Professor Colleen Aldous, the study investigated the demographic and genetic influences on breast cancer development in KZN.
The study reported 60 mutations, including novel variants unique to South African Black and Indian people from KZN. The reported mutations were molecular biomarkers which are potential diagnostic targets for hereditary or BRCA1(Breast Cancer Gene 1) – like breast cancers common in Black South African patients.
Dr Makhetha said the study also explored the role of epigenetic factors – mainly DNA methylation – on the development of breast cancer in Black South African patients.
“My study compared methylation signatures in breast tumours with normal adjacent tissues and reported a significant difference. This suggests that besides genetic mutations, DNA methylation is a potential predictor and prognostic factor in BRCA1-like breast cancers and must be considered for clinical use,” Dr Makhetha said.
The studies highlight the need for inclusive and precise approaches to breast cancer diagnosis in under-represented populations.
Dr Makhetha was concerned that compared to other populations, the majority of Black South African patients were diagnosed with early onset and aggressive breast cancer, and also die from the condition.
This is due to various factors including late presentation, potential misdiagnosis and poor response to treatment, she said.
One area of influence is addressing the diagnostic factors which also inform treatment decisions, Dr Makhetha said.
The current genetic diagnostic tests are tailored for White South Africans, she added, yet are offered to all South African populations. This needs urgent attention hence the motivation for the study, she said
“I am humbled by my accomplishment. It was the outcome of a collective effort by my village. Although I wear the gown, I’m proudly standing on the shoulders of women who came before me, making sure I see and walk further. In future, I plan to build on the efforts already made, to make a difference in the country in the breast cancer space, and for other students who may aspire to take the baton,” said Dr Makhetha.
Talking about her passion, Dr Makhetha said she fell in love with science in high school, leading her to study the discipline at Master’s level in Medical Sciences at the University of Free State.
She persevered through the challenges presented by Covid-19, drawing on the support of her supervisor and family to finish her PhD at UKZN.
“This degree led to three publications which I’m very proud of. I also presented my findings on big platforms such as the Breast Interest Group of Southern Africa, the Surgical Research Society, the European Association of Cancer Research (Spain), Excellence for Oncology Care (Dubai) and many more. All these accomplishments made the journey and the pain worth it,” she said.
Dr Makhetha said she had planned to get married only after she completed her PhD, and was now happy to announce that her wedding will be taking place soon.
