In DepthBiomedicine

‘Polygenic’ analyses may sharpen disease risk predictions

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Science  20 Dec 2019:
Vol. 366, Issue 6472, pp. 1431
DOI: 10.1126/science.366.6472.1431

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Summary

Women who learn that they have a mutation in the breast cancer gene, BRCA1, face a wrenching decision. Their doctor or genetic counselor will likely tell them that women with such mutations have, on average, a 72% lifetime risk of breast cancer and a 44% risk of ovarian cancer. Given that, up to half decide to have prophylactic mastectomies, and many have ovaries removed, too. But recent studies show a woman could be given a more individualized, accurate cancer risk estimate by factoring in other gene variants. A preprint posted last month finds that a person's "polygenic" background influences not only the disease risk conferred by a BRCA1 defect, but also risks from single gene mutations linked to colorectal cancer and heart disease. Some individuals were very likely to develop cancer or heart disease by age 75, the analysis showed, whereas in others the risk was not much greater than in a person without the high-risk mutation.

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