The research of the Biostatistics Unit lies in the field of genetic epidemiology of complex diseases with a focus on breast cancer. We are interested in the genetic architecture of breast cancer and investigate the effect of both common variants identified through Genome-wide Association Studies (GWAS) and rare variants identified via sequencing experiments. 

We work on Polygenic Risk Score (PRS) development and also examine the effect of the difference in genetic background to the disease risk prediction. We also apply novel methods to perform fine-mapping in the current known breast cancer susceptibility loci with aim to increase our understanding of the disease etiology. 

Our work also spans the field of classification of rare Variants of Uncertain Significance (VUS) identified via sequencing experiments in high risk breast cancer susceptibility genes. We developed a novel method for the correct analysis of large case/control data that takes account the gene and age specific penetrance. Furthermore, we performed analyses of a large collection of ovarian cancer data and created specific guidelines for the use of ovarian cancer tumor characteristics to aid variant classification of VUS.

We work with large international consortia, namely the Breast Cancer Association Consortium (BCAC, https://bcac.ccge.medschl.cam.ac.uk/ ), Evidence-based Network for the interpretation of Germline mutant alleles (ENIGMA, https://enigmaconsortium.org ) and Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA, https://cimba.ccge.medschl.cam.ac.uk/).