College Postdoc Research Associate Dr Laura Fachal collaborated in major international study of the genetics of breast cancer

Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. In this new study, researchers from hundreds of institutions worldwide collaborated to compare the DNA of 110,000 breast cancer patients against that of some 90,000 healthy controls. By looking in much closer detail than was previously possible, they identified 352 risk variants. It is not yet clear exactly how many genes these target, but the researchers have identified 191 genes with reasonable confidence; less than one in five of these had been previously recognised.

The results, published early January 2020 in the journal Nature Genetics, provide the most comprehensive map of breast cancer risk variants to date. The researchers involved, from over 450 departments and institutions worldwide, say the findings will help provide the most detailed picture yet of how differences in our DNA put some women at greater risk than others of developing the disease.

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Laura Fachal

About Dr Laura Fachal

Laura is a Postdoc Research Associate at Lucy Cavendish College. Her research focusses on Human Genetics. During her PhD she studied the role of common genetic variation in the development of radiation induced toxicity. She came to the UK as a postdoc with a Marie Skłodowska-Curie IF Fellowship to work at the University of Cambridge. Her work was to determine, through fine mapping approaches, how common variations increase the risk of developing breast cancer risk and radiation induced toxicity. Since then she has become particularly interested in understanding the biological mechanisms by which genetic variation affects complex phenotypes. Her current postdoctoral role focuses on inflammatory bowel disease at Carl Anderson's team.