Cancer Genetics

Genotyping to identify cancer risk

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Science  10 Jun 2016:
Vol. 352, Issue 6291, pp. 1289-1290
DOI: 10.1126/science.352.6291.1289-d

Certain genetic variants can increase a person's risk of developing cancer. For breast cancer, the link between BRCA1/2 variants and increased cancer risk is well established; however, the risk conferred by other breast cancer–associated genetic variants is not as well understood. To gain more insight, Li et al. combined family history with 24 previously identified cancer-associated single-nucleotide variants (excluding the BRCA1/2 genes) to develop a breast cancer risk score. Applying these risk scores prospectively to 2599 women revealed that this method was more accurate than familial history alone in determining the risk of developing breast cancer.

Genet. Med. 10.1038/gim.2016.43 (2016).

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