A recent study by Durban’s Dr Mpoi Makhetha on breast cancer patients in KwaZulu-Natal is believed to be the first of its kind in the country to report on demographic and genetic trends.
The research was conducted over 11 years, and is also understood to be the first on the continent to investigate methylation signatures in breast tissues of African patients and their association with breast cancer development.
DurbanLocal reports that the work, supervised by Professor Colleen Aldous, and which investigated the demographic and genetic influences on breast cancer development in the province, reported 60 mutations, including novel variants unique to 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.
Makhetha, recently awarded her PhD from the University of KwaZulu-Natal, 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,” she said.
The studies highlight the need for inclusive and precise approaches to breast cancer diagnosis in under-represented populations, she added, expressing concern that compared with other populations, most 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.
Makhetha said one area of influence is addressing the diagnostic factors which also inform treatment decisions.
Current genetic diagnostic tests were tailored for white South Africans, yet are offered to all South African populations, she noted, and needed urgent attention.
Makhetha fell in love with science in high school, going on 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, she told DurbanLocal.
“This degree led to three publications, of which I’m very proud,” she said.
She has also presented her findings on platforms like the Breast Interest Group of Southern Africa, the Surgical Research Society, the European Association of Cancer Research (Spain), Excellence for Oncology Care (Dubai) among others.
See more from MedicalBrief archives:
Durban experts flag breast cancer genetic trends for different race groups
New breast cancer genes identified in African women
Global study to determine why black people have worse cancers