Genetics and a rare bone cancer

Late last year researchers with support from the Chordoma Foundation identified a genetic marker associated with that rare form of bone cancer.

The Chordoma Foundation has also partnered with 23andMe to raise awareness about our Sarcoma Research Initiative aimed at better understanding genetic associations with this disease.

The original study led by scientists at University College London showed that a marker called rs2305089 is linked to higher risk for chordoma. Researchers at 23andMe were able to quickly replicate the finding.

The original study included 40 individuals with chordoma and another 358 people without the disease. In its replication study, 23andMe was able to quickly gather data from 22 people with chordoma and 220 without it. The data from the two studies together suggest that the T version of rs2305089 is associated with between two and six times higher odds of chordoma.

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More than 50 percent of people with European ancestry have at least one T at rs2305089. At the same time, fewer than one in 1,000,000 people develop chordoma in the general population. This means that although this genetic variant increases a person’s odds of chordoma, very few with the variant will actually develop it.

The discovery offers important insight for scientists studying this rare cancer, which affects mostly people of European ancestry. It is also another example of how 23andMe’s unique research platform can contribute to research on rare disease.

Ed: (April 16, 2013) This post was updated to include information about the incidence of chordoma.