Hereditary cancer predisposition with Dr Emma Woodward and patient Nick Brown: How can the ATLAS study improve cancer early detection in carriers of Li Fraumeni Syndrome?

One in Two

In this episode, we speak to Dr Emma Woodward and patient Nick Brown, about hereditary cancer predisposition, focusing on:

· Li Fraumeni Syndrome (LFS), a rare cancer predisposing condition which gives a 70% lifetime risk of developing cancer, caused by germline mutations in the TP53 gene

· Nick’s diagnosis with LFS syndrome and the affect this has had on him and his family

· The current screening regime for LFS

· The ATLAS study run by Dr Emma Woodward in collaboration with Ontario Institute for Cancer Research in Toronto, Canada, which is working to change cancer detection in LFS

Show notes:

Dr Emma Woodward research profile

The George Pantzirka TP53 Trust

Li Fraumeni Syndrome

Speaker profiles:

Dr Emma R. Woodward:

Dr Emma R. Woodward is a Clinical Geneticist specialising in hereditary cancer predisposition.

Dr Woodward studied medicine at the University of Cambridge where she also completed a PhD studying familial phaeochromocytoma and familial renal cancer. She then undertook training in adult medicine in London, Lausanne and N. Ireland prior to her higher specialist training in Clinical Genetics in Birmingham. During this time Dr Woodward received an NIHR Clinician Scientist Award and undertook further study of familial renal cancer. She became a consultant at Birmingham Women’s Hospital in 2008 and at Saint Mary’s Hospital in 2015.

Dr Woodward’s current research is aimed at improving cancer prevention and early detection strategies for families with a hereditary cancer predisposition. Dr Woodward is an Alliance of Cancer Early Detection (ACED) Director of Research for Trials and Principle Investigator of the ACED-funded study: ELECTRIC (Early Detection of Hereditary Renal Cancer), MAHSC -funded study: PRO-DIRECT (Direct genetic testing for prostate cancer) and a LifeArc-funded project to calculate risk of second primary cancers in hereditary retinoblastoma. Dr Woodward is also joint-PI for the Cancer Research UK/ Ontario Institute for Cancer Research-jointly funded ATLAS study (eArly deTection in Li frAumeni Syndrome).

Nick Brown:

Patient Nick Brown is married to wife Amanda and has three children aged 25, 23 and 20. He is originally from North Yorkshire and after attending school in Leeds and University at Nottingham, he studied to be a chartered accountant with a big four firm.

After qualifying and leaving the profession, Nick spent most of his career in textiles, initially working in carpets and for the last 20 years as finance director at Camira group. In 2019 he retired and remained as a non-exec director and has subsequently taken on a further non-exec role at a worsted suit manufacturer in Leeds.

Nick first discovered he had LFS following the passing of his sister who died from multiple cancers in 2015. He was subsequently tested, and it was confirmed he had LFS in 2017. Since then, Nick has been under the care of the genetics team in Manchester and specifically with Dr Emma, Woodward. More recently all of Nick’s children are now in the process of testing to see if they also have LFS.

Nick was asked by Emma if he wished to participate in the ATLAS project which he was very happy to do and acted as a lead advocate at a number of patient group feedback sessions. The aim of these sessions was to inform what the Atlas project was about and to obtain patient feedback about the outcomes which may arise from the project.