Our breakfast meetings are intended to be informal, quick talks by Programme members about work they are currently undertaking. Our first breakfast meeting of 2021 is led by Dr. James Whitworth.

Hereditary cancer predisposition syndromes present opportunities for clinical intervention but diagnosis has previously been limited by availability of DNA sequencing. Advances in these techniques have led to capability for broadly applied extensive genetic analysis to enhance case detection. I will discuss our studies investigating germline whole genome sequencing for this purpose with an emphasis on renal cell carcinoma (RCC).

Once individuals with a predisposition syndrome are identified, the mainstays of management are preventative surgery or regular surveillance with the aim of detecting early stage cancer. Such individuals stand to benefit from novel early detection techniques and I will describe a new collaboration investigating the application of platelet transcriptomics in hereditary RCC.