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Full NameStuart McIntosh
Department:Centre for Cancer Research & Cell Biology
Organisation:Queen's University Belfast
- genetics, genomics and molecular biology
Postgrad Medical Specialties
My group's work is focused on the development and validation of biomarkers to stratify the pre-surgical and surgical management of women with breast cancer, and to aid in the management of women at high-risk of developing breast cancer. Together with the DNA Damage Repair Group within CCRCB we are working to improve our understanding of tumour initiating events in BRCA mutation carriers, both in the laboratory setting using translational samples obtained from surgery, and in the context of a proof-of-concept clinical study. Other ongoing projects include working to understand the mechanisms that predispose some women to the development of bilateral breast cancers - either metachronous or synchronous. We have established collaborations with the
More information about the Centre for Cancer Research and Cell Biology at QUB can be found here: http://www.qub.ac.uk/research-centres/CentreforCancerResearchCellBiology/
Around 1-3% of women diagnosed with breast cancer also have a cancer in their opposite breast - synchronous bilateral breast cancer (SBC). It is not known whether SBCs represent metastatic breast cancer from the index primary tumour, or whether they are independent second tumours. It is important to be able to differentiate in order to plan the optimal treatment to women with SBC, as treatment for two separate cancers would be very different from treatment for metastatic disease.
This research aims to access archival tumour blocks from around 250 Northern Irish women who have developed SBCs over the last 20 years. Following tumour annotation and macrodissection, DNA will be extracted from these tumours as well as from adjacent normal breast tissue, and a panel of commonly mutated breast cancer genes sequenced in both tumours, as well as a panel of known risk predisposition genes. Using this approach, with our established analytic bioinformatic pipelines (already successfully utilised in our group) we will be able to identify the clonally related tumours which represent metastatic disease, and those which are independent primaries.
We will also be able to determine what proportion of women with SBC harbour a previously undiagnosed mutation in a breast cancer risk predisposition gene, which would be useful to determine the most appropriate surgical management of SBC as such women may benefit from bilateral mastectomies due to their high risk of developing a further breast cancer.