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International consortium adds 72 genetic variants to list of known breast cancer associations

, by DCEG Staff

An international team of scientists, known collectively as the OncoArray Network, have identified an additional 72 common inherited variants associated with risk for breast cancer, 10 of which were identified by analyses of estrogen-receptor negative disease and BRCA1 mutation carriers who have strong susceptibility to develop triple negative breast cancer. In all, these findings, published in Nature and Nature Genetics on October 23, 2017, nearly double the number of known risk variants for breast cancer, clearing the way for improved genetic risk models to help clinicians advise women on appropriate prevention strategies.

The OncoArray Network, an international genotyping project, comprises hundreds of research institutions, including the NCI Division of Cancer Epidemiology and Genetics. By pooling studies from around the world, the OncoArray Network amassed study populations sufficiently large to detect small effects from scores of common variants through genome-wide association studies—over 256,000 women and over 140,000 women for the Nature and Nature Genetics papers, respectively.

Montserrat García-Closas, M.D., Dr.P.H., Deputy Director of DCEG, served on the writing group for the report in Nature Genetics, and as co-author in the Nature report, alongside other DCEG investigators who served as co-authors in both publications. Dr. García-Closas co-chairs the Pathology and Survival Working Group in the Breast Cancer Association Consortium (BCAC) that, together with the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), was central to the Nature Genetics paper. Other DCEG investigators participating in the effort include Stephen J. Chanock, M.D., Louise Brinton, Ph.D., M.P.H., Robert Hoover, M.D., Sc.D., Zhaoming Wang, Ph.D., Xiaohong Rose Yang, Ph.D., M.P.H., Mark Greene, M.D., Jennifer Loud, R.N., C.R.N.P., D.N.P., Belynda Hicks, M.S., Kristine Jones, and Bin Zhu, Ph.D.


Milne et al. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nat Gen. October 23, 2017. DOI:10.1038/ng.3785

Michailidou et al. Association analysis identifies 65 new breast cancer risk loci. Nature. October 23, 2017. DOI:10.1038/nature24284


Watch a video about the OncoArray Network, featuring DCEG Director Dr. Chanock.

Read more about the OncoArray Network on the NCI Division of Cancer Control & Population Sciences website.

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