The University of Edinburgh Tumour Mutation Profiling Studies


£150,000 was awarded to Dr Olga Oikonomidou, Consultant Medical Oncologist and Leader of The University of Edinburgh Breast Cancer Translational Research Group at the Edinburgh Cancer Research Centre. This grant funds a 3 year post-doctoral researcher post in Dr Oikonomidou's team. 

Dr Oikonomidou and her team have been working on two studies that will help us better understand the specific gene changes, or mutations, that drive cancer growth in patients who have been treated with CDK4/6 inhibitors or who have Triple Negative Breast Cancer (TNBC). 

This research aims to understand which patients will most likely benefit from CDK4/6 inhibitor treatment and for TNBC, how the cancer mutates over the course of treatment and recurrence. 

More details on these studies can be found below. 


CDK4/6 Inhibitor Study 

This study focuses on a class of drugs called CDK4/6 inhibitors, which are used to treat metastatic breast cancer and work by interrupting how cancer cells divide and multiply. 

High amounts of mutations and large scale changes in DNA result in what researchers call 'genome instability'. Genome instability drives the growth of tumours and can lead to the tumour becoming resistant to therapy, although the precise mechanisms involved in resistance are poorly understood. 

This study uses cutting-edge genomic analysis technologies to investigate the mutation profiles and level of genome instability within breast cancer tumours before treatment occurs, after initial chemotherapy (before surgery), after surgery and in any metastatic recurrences. Blood samples are also being collected to look for circulating tumour DNA (ctDNA) and analyse their mutation profiles. Circulating tumour DNA is when small pieces of DNA leak into the bloodstream as a tumour cell dies.

The information the researchers uncover in this study will help us better understand the genetic changes that lead to resistance to CDK4/6 inhibitor treatment and those that increase the likelihood of successful treatment.

TNBC Study

Triple Negative Breast Cancer (TNBC) accounts for ~15% of all breast cancer cases and around 8,000 women are diagnosed with TNBC in the UK each year. TNBC is harder to treat than other breast cancer types, has a higher risk of spreading and disproportionately affects women under 40 and those from black backgrounds. 

TNBC tumours are incredibly complex, containing subpopulations of cancer cells with different DNA mutations that behave differently to each other. This is called tumour heterogeneity. 

This study aims to investigate how these tumour subpopulations change over the course of treatment from initial diagnosis to recurrence or disease-free survival using cutting edge genomic techniques.  

It is common for TNBC patients to have chemotherapy to shrink the tumour before surgery.  There is an urgent need to better understand how these tumour subpopulations evolve in response to this practice and how they change if the cancer reoccurs (or spreads). This will provide a better understanding of TNBC tumour evolution and we hope lead to improvements in the treatment of triple negative secondary breast cancer.