Introduction/Background The 100,000 Genomes Project aims to improve cancer services through providing whole genome sequencing (WGS) of normal and tumour tissue in order to determine the genomic mutation responsible. This has the potential to radically change oncology services by offering personalised therapeutics to minimise side effects and optimise response to therapy. This study presents a single-centre experience of results of ‘actionable mutations’ following WGS and how this may alter subsequent management.
Methodology Patients diagnosed with ovarian and endometrial malignancies were approached to take part in the project and consent gained. Blood and tissue samples were sent for WGS and the results were discussed within a multi-disciplinary meeting.
Results Preliminary results from our cohort demonstrate that largely high grade serous ovarian cancers are associated with a somatic TP53 mutation, most frequently of frameshift variant. No germline mutations were detected within the ovarian malignancies and there were no mutations in BRCA. The majority of endometrial cancers were not associated with a common underlying mutation; one endometrioid endometrial cancer was found to have a germline mutation of MSH2 in keeping with Lynch syndrome whilst one lady with serous endometrial cancer was found to have a somatic frameshift mutation in TP53, similar to those women with high grade serous ovarian malignancy.
Conclusion Preliminary results suggest that there are no common mutations linking endometrial cancers making it unlikely that personalised medicine will be imminently achievable in the management of endometrial cancer. High grade serous ovarian malignancies are associated with somatic mutation in TP53 but this is yet to be correlated with alternative subtypes of ovarian malignancy and longitudinal studies are required to see how this impacts response to therapy and long-term outcome.
Disclosure Nothing to disclose.
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