Research highlight

New genetic risk factors for breast cancer

Nature Genetics

March 30, 2009

Several new regions of the genome that predispose to breast cancer have been identified in two large studies online this week in Nature Genetics.

Whether or not a woman is susceptible to acquiring breast cancer is determined by several environmental and lifestyle factors. However, there is also an inherited susceptibility that contributes to getting the disease, since the frequency is twice as high in first-degree relatives of women with breast cancer, than in relatives of women without prior history.

Two large association studies carried out by David Hunter and colleagues, and a group led by Douglas Easton, identify new regions of the genome that are significantly associated with a predisposition for breast cancer. These associations are found near genes that encode proteins associated controlling cell growth like NEK10, or involved with repairing damaged DNA, like RAD51L1. Genes that encode proteins that affect cellular metabolism were also implicated to contribute to breast cancer. SLC4A7 is associated with the pH of the tumour microenvironment and NOTCH2 and FCGR1B are associated with type 2 diabetes.

The identification of the precise mechanism underlying the effects of these common variants on acquiring breast cancer will be critical to understanding the early signs of the disease and to uncovering possible preventions.

doi: 10.1038/ng.353

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