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Fine Scale Mapping of the 4q24 Locus

Does it reveal breast cancer risk?

Publish date:: October 20, 2015

There are 2 independent association signals at 4q24 related to breast cancer risk; association in this locus may be mediated through the regulation of TET2, according to a fine-mapping analysis of 55,540 patients with breast cancer and 51, 168 controls. Researchers found:

• Conditional analyses identified 2 independent association signals among women of European ancestry, represented by rs9790517 and rs77928427.

• There are 2 putative functional variants, rs62331150 and rs73838678 in linkage disequilibrium with rs9790517 residing in the active promoter or enhancer, respectively, of the nearest gene, TET2.

• Both variants are located in DNase I hypersensitivity and transcription factor-binding sites.

• rs62331150 is associated with level of expression of TET2 in normal and tumor tissue of the breast.

Citation: Guo X, Long J, Zeng C, et al. Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk. [Published online ahead of print September 9, 2015]. Cancer Epidemiol Biomarkers Prev. doi: 10.1158/1055-9965.EPI-15-0363.

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