From lab to clinic: bridging cancer genetics and public health

Interviewer: Joining us today is Professor Clare Turnbull. Clare is a professor of Translational Cancer Genetics in the Division of Genetics and Epidemiology at the Institute of Cancer Research in London. She's also an honorary consultant in clinical genetics at The Royal Marsden NHS Foundation Trust and an honorary consultant in Public Health Medicine at the National Disease Registration Service at NHS England. Clare, thank you for being here today. We're delighted to have you with us. Prof. Turnbull: Thank you. Interviewer: You work in cancer susceptibility genetics. Can you tell us a bit about this field? Prof. Turnbull: Yes. It has long been observed that you see a clustering of particular types of cancers in specific families, and this field came into its fore in the 1990s, when the emerging technologies enabled the studying of genomic regions in such families, to find the shared region tracking through the affected individuals in the family, allowing what was called linkage and subsequently cloning of the gene to identify what was causing the disease in families. BRCA1, BRCA2 for hereditary breast ovarian cancer were identified via linkage. MLH1, MSH2, for lynch syndrome, TP53 for Li-Fraumeni and so forth. This allowed us to get a handle on the types of genes which were causing these strong patterns of disease in families. Additional linkage studies were less fruitful, so we went on to other methodologies, typically case-control studies. This allowed us to find genes associated with cancer,