Professor Turnbull applies molecular genetic technologies and genetic epidemiologic techniques to identify and characterise genetic factors that predispose to cancer.
She has performed studies of genetic predisposition in a number of cancers, but focuses particularly on testicular, breast and ovarian cancer. Recent studies include several
genome-wide association studies which have identified genomic variants common in the general population that are associated with risk of breast, testicular and renal cancer (Wilms tumour).
Currently, one of her major focuses is the optimisation and application of new ‘next-generation’ sequencing technologies and downstream analyses of these data in order to identify novel cancer predisposition genes.
Professor Turnbull leads the Cancer Research UK funded UK Genetics of Testicular Cancer Study, through which she has collected samples and data from almost 4,000 men with testicular germ cell tumour – the largest such series in the world. Through experiments using these samples, all eight common genetic variants associated with testicular cancer have been identified here at the ICR. Professor Turnbull is still recruiting to this study and a number of experiments using this sample series are underway. She is an internationally recognised expert, speaker and collaborator in the field of the genetics of testicular cancer.
Her research also focuses on translation of the findings of such research to deliver improvements in clinical care. For example, her recent studies in ovarian cancer have led to the identification of a new ovarian cancer predisposition gene, for which clinical testing will soon be available for individuals and families with ovarian cancer.
With the support of the Wellcome Trust, she is currently working with Professor Nazneen Rahman on a complex translational programme to transform the delivery of clinical testing for cancer predisposition genes, using revolutionary genetic technologies to bring extensive genetic testing to many more patients in the oncology clinics. Professor Turnbull also receives support from the Movember Foundation to identify new familial genetic causes of testicular cancer, which will enable improved diagnosis and management for patients with the condition, and provide new options for their families.