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Southampton Clinical Trials Unit POSH study publishes Nature Genetics paper

Published: 19 June 2018
Diana Eccles
Diana Eccles, Chief Investigator for POSH study

The POSH study has published an important new paper in Nature Genetics today looking at the transcriptome-wide association study of 229,000 women for new candidate susceptibility genes for breast cancer.

The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown. To identify novel risk loci and likely causal genes, authors performed a transcriptome-wide association study evaluating associations of genetically predicted gene expression with breast cancer risk in 122,977 cases and 105,974 controls of European ancestry. Authors used data from the Genotype-Tissue Expression Project to establish genetic models to predict gene expression in breast tissue and evaluated model performance using data from The Cancer Genome Atlas. This study provides new insights into breast cancer genetics and biology.

Publication can be accessed here Nature genetics paper


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