Whilst visiting UCT recently my international colleagues and I had the opportunity to meet with Prof Raj S. Ramesar, Head of the Department of Pathology, Head of the Division of Human Genetics. What he explained to us was intriguing.
With a focus on Identified familial cancers predominant in the Northern Cape (under-resourced and sparsely-populated), this project speaks to the department’s vision of” genetic discoveries leading to remarkable changes in disease management. Work is done to identify the disease-causing mutations, and following up with the extensive genetic lineages. Genetic counselling and predictive testing is then conducted. Work is now focused on earlier circulating markers to identify precancerous states, obviating the need for regular colonoscopies for high risk individuals.”
An initial trip to the Northern Cape started with a small team of a surgeon, GIT specialist, a nurse and a geneticist. Five years ago PinkDrive joined in the trips. The 2019 trip consisted of as many as 50 people – several from overseas to observe this project in action. PinkDrive made a video of the August 2019 visit.
Research was also undertaken as an international collaborative on clinical trials of simple aspirin in these ‘mutation positive individuals’ and showed a delay of disease by up to 10 years. This was published in the NEJM and Lancet.
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.
Burn J, Gerdes AM, Macrae F, Mecklin JP, Moeslein G, Olschwang S, Eccles D, Evans DG, Maher ER, Bertario L, Bisgaard ML, Dunlop MG, Ho JW, Hodgson SV, Lindblom A, Lubinski J, Morrison PJ, Murday V, Ramesar R, Side L, Scott RJ, Thomas HJ, Vasen HF, Barker G, Crawford G, Elliott F, Movahedi M, Pylvanainen K, Wijnen JT, Fodde R, Lynch HT, Mathers JC, Bishop DT; CAPP2 Investigators.
Lancet. 2011 Dec 17;378(9809):2081-7. doi: 10.1016/S0140-6736(11)61049-0. Epub 2011 Oct 27.
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome.
Burn J, Bishop DT, Mecklin JP, Macrae F, Möslein G, Olschwang S, Bisgaard ML, Ramesar R, Eccles D, Maher ER, Bertario L, Jarvinen HJ, Lindblom A, Evans DG, Lubinski J, Morrison PJ, Ho JW, Vasen HF, Side L, Thomas HJ, Scott RJ, Dunlop M, Barker G, Elliott F, Jass JR, Fodde R, Lynch HT, Mathers JC; CAPP2 Investigators.
N Engl J Med. 2008 Dec 11;359(24):2567-78. doi: 10.1056/NEJMoa0801297.
The Department will be hosting the International Congress of Human Genetics in Cape Town in March 2021. Follow the congress link for more information.