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Department of Public Health and Primary Care (PHPC)

 

Biography

I joined the world of breast cancer genetic epidemiology after completing a BSc Joint Honours in Maths and Psychology, and an MSc in Medical Statistics. My first research position was in understanding the role of genetic variants in response to radiotherapy and chemotherapy as treatment for breast and prostate cancer, measured by normal tissue damage and survival endpoints. This led me to completing a PhD titled “The genetic epidemiology of adverse response to cancer treatment” under the supervision of Dr Gillian Barnett and Professor Jean Abraham. Throughout my PhD and continuing in the following years, I had the benefit of participating in, and collaborating with, the Radiogenomics Consortium. After completing my PhD, I joined Professor Doug Easton’s group in the Centre for Cancer Genetic Epidemiology as a statistician/genetic epidemiologist where my role has been mostly statistical analysis of data from the BRIDGES project of genetic susceptibility to breast cancer [1,2]. My work with the Breast Cancer Association Consortium resulted in two papers quantifying the breast cancer risks associated with protein truncating variants and missense variants in breast cancer susceptibility genes. Currently, I am working on pedigree analysis that includes family history of breast cancer information from the study participants. The aim of my work is to refine and improve the risk estimates for the breast cancer genes such that they can be used in risk models in the clinical setting, to predict an individual’s risk of breast cancer and/or their probability of carrying a risk-increasing genetic variant. One example of this application to the clinical setting is the CanRisk prediction tool. Recently, I have become involved in the wider CanRisk programme, with the goal of aiding/advising the statistical analysis for the MyCanRisk project. Alongside my research role, I supervise students and assist teaching on the MPhil in Population Health Science.

Publications

[1] Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, et al. Breast cancer risk genes-association analysis in more than 113,000 women. N Engl J Med. 2021;384:428–39.

[2] Dorling L, Carvalho S, Allen J, Parsons MT, Fortuno C, González-Neira A, et al. Breast cancer risks associated with missense variants in breast cancer susceptibility genes. Genome Med 2022;14(1):51 doi 10.1186/s13073-022-01052-8

Research Associate

Contact Details

ld429@cam.ac.uk