Medics from Rwanda Biomedical Centre (RBC) are investigating the relationship between genetic mutations and breast cancer among Rwandan patients.

Titled "molecular characterisation and genetic mutation driving breast cancer in Rwandan population,” the research project that started in 2019 is studying the distribution of different molecular subtypes of breast cancer among Rwandan patients, as well as identifying evidences for genetic mutations or hormonal issues that fuel cancer growth among the population.

Funded by the National Commission of Science and Technology (NCST), it is one of the flagship projects that the country is doing as part of the efforts towards developing capacities for precision medicine.

Precision medicine is an advanced medical model that proposes the customization of healthcare, with medical decisions, treatments, practices, or products being tailored to a subgroup of patients, as opposed to a "one‐drug‐fits‐all" model.

The treatment model takes into consideration the variation of genes, environment and lifestyle of individuals.

Under the research project, medics have documented available clinical data for more than 1,500 Rwandan patients who have been diagnosed with breast cancer since 2014, in an effort to understand among other things, their demographic information, clinical pathological characteristics, and the treatment they received.

The project also includes a phase of recruiting 324 new breast cancer patients, from whom cell samples will be extracted, and taken for molecular tests to detect any genetic mutations.

"From the samples, we will extract DNA and take it for further analysis - mainly sequencing and making sure that we are detecting mutations and genetic markers in that population,” Clarisse Musanabaganwa, a Medical Research Analyst at RBC's Research Innovation and Data Science Division explained to The New Times.

Musanabaganwa is the Principal Investigator for this particular research project. She is an epidemiologist and biotechnologist by profession, currently pursuing her PhD in epigenetics and bioinformatics.

She also cited the reason why they decided to recruit new patients instead of using tissues from biobanks, for this phase.

"If we were to use biobanks, the quality of the samples from there could not allow us to trace the molecular aspects that we want,” she said.

By next year, it is expected that the findings of the project will be published, and may inform, in a number of ways, how breast cancer is managed in the country.

For instance, Musanabaganwa says that depending on the outcomes of the research, medics may start to consider treating breast cancer patients based on their genetic profiles.

Here, she reckons that treatments like hormonal therapy can start to be used in Rwanda.

Hormonal therapy is a treatment that adds, blocks, or removes hormones. For certain conditions (such as diabetes or menopause), hormones are given to adjust low hormone levels.

Hormones can also cause certain cancers (such as prostate and breast cancer) to grow.

To slow or stop the growth of cancer, synthetic hormones or other drugs may be given to block the body’s natural hormones, or surgery is used to remove the gland that makes a certain hormone.

According to the World Health Organisation, in 2020, there were 2.3 million women diagnosed with breast cancer and 685,000 deaths globally. As of the end of 2020, there were 7.8 million women alive who were diagnosed with breast cancer in the past 5 years, making it the world's most prevalent cancer.