Somatic mutation profile of breast cancer in Uganda

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Published: 8 Jun 2023
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Dr Manoj Menon - Fred Hutchinson Cancer Center, Seattle, USA

Dr Manoj Menon speaks to ecancer about a poster he presented on a study that conducted molecular testing on breast cancer tumours from patients at the Uganda Cancer Institute.

He explains that women in Uganda tend to present 10-15 years earlier than women in the US and at a more advanced stage; with researchers believing there could be a molecular reason for this.

Dr Menon reports that there is currently a 'one size fits all' approach' in Uganda and that hopefully studies like this will lead to the introduction of more personalised approaches.

Breast cancer remains a very common cancer globally; it is the most common cancer in Sub-Saharan Africa. The Fred Hutchinson Cancer Center and the Uganda Cancer Institute have had an over decades long collaboration working on research and training. In part of this collaboration, we recognise the burden of disease for breast cancer and the need for further investigation.

This is a study of 100 women who were enrolled between 2018 and 2021 to identify the mutational profile of breast cancer in Ugandan women. The reason we thought that this was particularly important is because the women in Uganda who present with breast cancer do so at a younger age, roughly 12-15 years younger than the median age in the US - in their early 40s is when they present - and they present with an advanced stage of disease. So we suspected there could be some mutations that are driving this cancer, and in fact we did see that. We saw that 48% of women had a mutation in either BRCA1 or BRCA2 mutation, a somatic mutation, 65% of the women had a mutation in TP53, and a sizeable percentage, 35% of women, had a mutation in a PI3 kinase. We think this is particularly important because it potentially would allow for targeted therapies that currently may not be so accessible in Uganda, but with the hope that this kind of data could inform targeted clinical trials.

Right now, we have roughly a one size fits all therapeutic approach to treating certain cancers, including breast cancer, in Uganda, with chemotherapy. These mutations may allow for more precise precision medicine, with targeted therapeutics which includes the provision of oral medications, which may be more easily accessible than IV therapies. That’s the case in Uganda, other countries in Sub-Saharan Africa, and also rural areas in the US and other wealthy nations as well. So I think trying to identify opportunities where we can increase medications to patients at need where they are would be a beneficial thing.