Oncology Central

72 new breast cancer genetic variants discovered

A novel breakthrough global study has unearthed 72 more genetic variants responsible for increasing the risk breast cancer.  The newly identified risk regions nearly doubles the total number of known variants associated with breast cancer, bringing the number to approximately 180. The findings published across two papers in Nature and Nature Genetics, are the result of work by the OncoArray Consortium.

The huge endeavour comprised 550 researchers from approximately 300 different institutions spanning across six continents. In total, the researchers analyzed the genetic data of 275,000 women. 146,000 of these women had been diagnosed with breast cancer.

One of the lead investigators on the study, Doug Easton (University of Cambridge, UK) commented: “These findings add significantly to our understanding of the inherited basis of breast cancer. As well as identifying new genetic variants, we have also confirmed many that we had previously suspected. There are some clear patterns in the genetic variants that should help us understand why some women are predisposed to breast cancer, and which genes and mechanisms are involved.”

Of the 72 newly identified genetic variants, 65 are common among women with breast cancer whilst the remaining seven mutations predispose women to developing estrogen-receptor-negative breast cancer.

The risk variants identified in the two studies are common: while some are carried by one woman in a 100, others are carried by more half of all women. Individually, the risks conferred by each variant are modest. However, because they are common and their effects multiply together, the combined effect is considerable.

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