CONGRESS 2023 - Solid tumours: Biomarkers and treatments

The South East Genomic Laboratory Hub provides genetic and genomic testing for 19 acute NHS Trusts and 9 non-acute NHS Trusts in the South London, Kent, Surrey and Sussex region. Within the solid tumours service, we process DNA and RNA from patients with a range of cancer types and analyse them using next generation sequencing (NGS) assays. Once the variants within a patient’s sample are identified, Clinical Scientists review them and consider what impact they would have on the function on the protein encoded by that gene. Through a process called somatic variant interpretation, the variant will be classified according to its clinical significance in relation to providing diagnostic, prognostic, or therapeutic information. Some examples of the utility of this service include identification of: resistance variants in EGFR within the tumours of patients with non-small cell lung cancer, providing the clinician with information to support a change to the patient’s treatment. gene rearrangements involving TMPRSS2 can support a diagnosis of prostate cancer. certain variants in POLE within the tumours of patients with endometrial cancer can classify their tumour into a subgroup which is associated with an excellent prognosis

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