Common Genetic Variant Protects Against Breast Cancer

Rare mutations in the genes BRCA1 and BRCA2 significantly raise an individual's risk of breast cancer, but account for only a fraction of the overall variation in genetic risk. More common variants that have a smaller effect on individual risk have been difficult to find, largely due to the size of the studies needed to identify variants of small effect in a convincing manner.

The Breast Cancer Association Consortium, which comprises more than 20 collaborating research groups, examined 9 previously reported breast cancer susceptibility variants in at least 10,000 affected women and 10,000 disease-free women in a study led by Angela Cox. For 8 of the 9 genes, the Consortium reported either no association with breast cancer risk, or marginal evidence for an association. For a variant in the gene CASP8, however, they found a significant association. The particular variant assessed in the study is found in approximately 13% of women of European descent, and is protective, lowering the risk of breast cancer by approximately 10%.

Author contact:

Angela Cox (Sheffield University Medical School, Sheffield, UK)
E-mail: a.cox@shef.ac.uk

Abstract available online.

(C) Nature Genetics press release.

Message posted by: Trevor M. D'Souza