Research Studies

Breast and Ovarian Cancer Susceptibility (BOCS) Study

We use the samples and information collected through this study to identify and better understand the genetic factors that predispose individuals to develop breast and/or ovarian cancer. Over the last decade we have used various strategies such as genome-wide linkage analysis, genome-wide association studies and case-control sequencing of candidate genes to identify many genetic factors that contribute to causing breast cancer. We are now focussing on using next-generation sequencing to perform large-scale analyses of tens of thousands of genes in thousands of individuals to identify new breast and ovarian cancer predisposition genes. We also use the information to produce guidelines for clinical management and genetic testing of breast and ovarian cancer families. This study was previously called the Genetics of Familial Breast Cancer Study (FBCS) before it was renamed and expanded in 2012 to include ovarian cancer cases. 

Factors Associated with Childhood Tumours Study (FACT)

We collect samples and information from childhood cancer patients and their families from throughout the UK. We use these to identify genetic and epigenetic factors involved in causing childhood cancer, particularly childhood kidney tumours (known as Wilms tumour), and have made several discoveries in recent years. We also undertake studies to better understand the clinical manifestations of gene mutations so we can make recommendations for the management of families at increased risk of developing childhood cancer. 

Childhood Overgrowth Study (COG)

We recruit individuals and families with increased growth.and/or asymmetric growth in childhood. We use multiple strategies to identify and characterise genetic and epigenetic mechanisms involved in promoting growth, some of which are also implicated in causing cancer (in which there is increased growth of cells). We also undertake studies to define the clinical consequences of mutations in overgrowth genes and use the information to develop guidelines for the diagnosis and manage of children with overgrowth and their families.