Good News for Early Stage Breast Cancer

Ilse Fredericks recently reported about a new study which used the research translation database tool.

Dr Kathleen Grant and her co-authors were among a group of women in science who were recently featured on the cover of the SA Journal of Science.

The issue was dedicated to women in science and emanated from the 2nd International Women in Science without Borders conference which was held in Johannesburg.

Grant said the results from the study allowed for the molecular identification of a group of women with what is called, luminal A breast cancer, who after having their tumours surgically removed, have a low-risk of distant cancer recurrence and do not have to undergo chemotherapy, thereby safely avoiding the unpleasant side effects of this treatment.

“Conversely, we are able to identify tumours which will respond to chemotherapy or other more aggressive treatments, with greater accuracy than when using conventional laboratory testing techniques. Combining conventional laboratory diagnosis with this new genomic testing, ensures that the right treatment is given to the right patient, and oncologists can avoid over treating early stage breast cancer patients who will gain no benefit from chemotherapeutic regimes.”

Grant said that to diagnose breast cancer, a sample of tissue is removed and sent to the laboratory where a histopathologist stains and examines the tissue microscopically. The appearance of the cells and how they stain enable the diagnosis of the type of breast cancer but this does not explain the genetic makeup of the tumour fully.

“Breast cancer genomic tests further analyse the tissue sample from the cancer tumour to see the expression level of certain genes. This level of activity relates to the behaviour of the cancer and we can calculate the risk of the cancer coming back (recurrence) as well as predict if the cancer will respond to chemotherapy or not.”

She said these tests help in the cancer treatment decision making for the particular patient. 

It is not the same as genetic testing which can be done on the blood or saliva of a healthy person to establish if they have an abnormal change, called a mutation, in certain genes known to carry  a higher risk for developing breast cancer in that particular individual.

“Our research focuses on early stage breast cancer cases, as patients presenting with advanced cancers will have to be treated differently and possibly more aggressively. In our cohort of patients we compared the conventional laboratory testing to MammaPrint/BluePrint genomic molecular subtyping.”

MammaPrint is the only genomic breast cancer test that is recommended in guidelines by the National Comprehensive Cancer Network (NCCN) and the American Society of Clinical Oncology (ASCO) for lymph-node positive patients, is FDA approved, and has the highest level of evidence for early-stage breast cancer patients with estrogen receptor-positive, lymph-node negative and positive breast cancer.

“Our efforts have also lead to medical funders in South Africa paying for this test.”

Grant, who has worked at CPUT for 12 years, said her field of cytopathology focuses on the diagnosis of cancers and their precursor lesions

“I’ve always been interested in how cancer develops and how to prevent it. Breast cancer lies closer to my heart as it’s mainly a women’s disease. Men do get breast cancer too and like most women in South Africa I have family and close friends who have survived or succumbed to breast cancer. The fact that we are now beginning to personalize breast cancers and tailor treatment to the individual patient, especially for women who are usually the centre of their families and often the sole bread winner in the South African context, being able to avoid chemotherapy treatment for early disease is just awesome!”

Preventing Multiple Sclerosis (MS) disability progression through early intervention.

In MS, the myelin surrounding the nerve axons is damaged due to the death of the cells that produce the myelin (oligodendrocytes), causing a malfunction in communication between your brain and your body. This can lead to a loss of movement, fatigue, loss of vision, and even pain in parts of the body.

Gknowmix GeneTalk would like to share the amazing story of Karen Nortje who was diagnosed with MS in 2006, at the same time that a scientific article was published by Prof Susan van Rensburg about the importance of nutritional support. A friend told her about this research and after a medical consultation, she decided to follow the Rapha Regimen program described in this article. Read more.

In the last 13 years, Karin has made a full recovery, lost 20 kilograms and finished three marathons and numerous shorter races. Watch the video below.


The positive effect of a healthy lifestyle and weight loss could partly be explained by the results of a previous research study performed in South Africa. We found that a subgroup of MS patients who inherited a genetic variation in the obesity-related FTO gene have raised homocysteine levels. The levels of this toxic amino acid correlated positively with body mass index (BMI) and total cholesterol levels. Daily intake of at least five fruits and vegetables had a favourable effect on the Expanded Disability Status Scale (EDSS). This novel finding is consistent with the role of FTO in demethylation and epigenetic changes and reinforces the importance of a healthy lifestyle to prevent or reduce the risk of MS disability. Read more.

A study by Gianfrancesco et al. (2016) has gone on to investigate the “Causal effect of genetic variants associated with BMI on MS susceptibility”.  Their findings confirmed an independent effect of FTO on MS susceptibility.

The presence of any of the multiple obesity-related gene variations identified in the human genome will not result in MS, but may affect the metabolic pathways involved in the development of MS that are mediated by a high BMI. This includes vitamin D status and chronic inflammation that also affects iron metabolism, providing another opportunity to reduce the risk, even in children with MS. Read more.

Demyelinating Diseases GeneScreen

At Gknowmix we offer the Demyelinating Diseases GeneScreen, which aims to identify a combination of genetic, biochemical and environmental factors associated with different subtypes of MS. The results could provide the information needed to improve quality of life at the individual level. While this screen cannot prevent or cure MS, it empowers patients with the expert knowledge to better manage their disease outcome in consultation with their doctor.

Do you still experience MS flare-ups? There is hope…
For more information or to find out how to get involved in the research, please visit

The research started 20 years ago when Roberta (Bobbie) Rooney coined the phrase “hereditary biochemical multiple sclerosis (HBMS)” 1 to describe a subgroup of people with MS who had a chronic iron deficiency. This concept was later expanded to “Pathology-supported genetic testing (PSGT)”, when we realised that there were other subgroups who had different biochemical deficiencies that also caused demyelination, such as dysregulation of folate-vitamin B12 metabolism, which includes deficiencies of folate and/or vitamin B12 and high homocysteine.2,3 Vitamin D deficiency and obesity (which is linked to high cholesterol) are considered to be causal risk factors for MS.4   Vitamin D also reduces the concentration of hepcidin in the blood, a protein that inhibits iron absorption. Vitamin D deficiency can therefore lead to iron deficiency/dysregulation.5

A combination of blood tests (listed below) available at most routine pathology laboratories are used together with genetic testing to take all these factors into account:

GENETIC PRE-SCREEN: Biochemistry Blood Test Panel
Full blood count & Diff
Serum iron
Transferrin saturation
C-reactive protein
Serum Folate
Vitamin B12
Vitamin D


  1. Rooney RN, Kotze MJ, de Villiers JN, Hillermann R, Cohen JA. Multiple sclerosis, porphyria-like symptoms, and a history of iron deficiency anemia in a family of Scottish descent. Am J Med Genet. 1999;86:194-6.
  2. van Rensburg SJ, Kotze MJ, Hon D, Haug P, Kuyler J, Hendricks M, Botha J, Potocnik FC, Matsha T, Erasmus RT. Iron and the folate-vitamin B12-methylation pathway in multiple sclerosis. Metab Brain Dis. 2006;21:121-37.
  3. Davis W, van Rensburg SJ, Cronje FJ, Whati L, Fisher LR, van der Merwe L, Geiger D, Hassan MS, Matsha T, Erasmus RT, Kotze MJ. The fat mass and obesity-associated FTO rs9939609 polymorphism is associated with elevated homocysteine levels in patients with multiple sclerosis screened for vascular risk factors. Metab Brain Dis. 2014;29:409-19. doi: 10.1007/s11011-014-9486-7.
  4. Harroud A, Richards JB. Mendelian randomization in multiple sclerosis: A causal role for vitamin D and obesity? Mult Scler. 2018;24:80-85. doi: 10.1177/1352458517737373.
  5. Smith EM, Alvarez JA, Kearns MD, Hao L, Sloan JH, Konrad RJ, Ziegler TR, Zughaier SM, Tangpricha V. High-dose vitamin D3 reduces circulating hepcidin concentrations: A pilot, randomized, double-blind, placebo-controlled trial in healthy adults. Clin Nutr. 2017;36(4):980-985. doi: 10.1016/j.clnu.2016.06.015.