Curating inherited variants in the context of precision oncology

Dr Shannon Nicolson
Curation Scientist
Precision Oncology
UMCCR 

Precision oncology has immense potential to improve patient outcomes through individualised treatment and molecularly-informed diagnostics. The UMCCR Precision Oncology Group applies whole genome sequencing and sophisticated bioinformatic tools to detect genetic variants that drive tumour growth. These changes may have been somatically acquired, or they may have been inherited and are known as germline variants. Typically, only a small fraction of somatic and germline variants are of clinical relevance and these are identified through careful curation. In the oncology context, germline variant curation aims to identify and report variants that have significant clinical implications for the patient and their genetic relatives. In this seminar, the process of germline curation at UMCCR will be discussed using several case studies to exemplify these implications.

Dr Shannon Nicolson is a curation scientist at the University of Melbourne Centre for Cancer Research (UMCCR). Before joining the UMCCR in 2021, Shannon completed her PhD in molecular biology at the Centre of Cancer Biology and University of South Australia in 2021, where she investigated the regulation of autophagy-dependent cell death. Shannon’s role at the UMCCR involves curating and reporting genetic variants to assist in the clinical care of patients with cancers that are challenging to diagnose and treat.