Karma cohort part of novel discoveries of new genetic breast cancer risk variants

As part of international research consortium including Karma samples, 72 new gene variants that predispose to breast cancer have been identified through an analysis of genetic data from more than 275,000 women, whereof 146,000 with breast cancer. Many of the genes lie in regulatory, rather than coding regions, and some are specific for oestrogen receptor negative breast cancer. “These findings add significantly to our understanding of the inherited basis of breast cancer,” commented Doug Easton, Ph.D., from the University of Cambridge, U.K., one of the lead investigators for the OncoArray consortium, to GEN News. The consortium includes more than 550 researchers at 300 research facilities across the globe.

The OncoArray consortium’s results are published in Nature and in Nature Genetics.

Links to articles in Nature and in Nature Genetics:

https://www.nature.com/articles/nature24284

https://www.nature.com/articles/ng.3785

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