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Heterozygous genetic variations of FOXP3 in Xp11.23 elevate breast cancer risk in Chinese population via skewed X-chromosome inactivation.

Human mutation - 1 Apr 2013

Zheng Jian, Deng Jieqiong, Jiang Lan, Yang Lei, You Yonghe, Hu Min, Li Na, Wu Hongchun, Li Wei, Li Hongbin, Lu Jiachun, Zhou Yifeng

Abstract excerpt

FOXP3 (forkhead box P3: also known as IPEX, XPID) is not only a hallmark of immunosuppressive regulatory T cells (Tregs), but also an X-linked breast cancer suppressor gene expressed in tumor cells. A two-stage investigation was conducted in individuals from northern, southern and eastern China. Individuals carrying a FOXP3 rs2294021CT genotype showed about 1.5-fold increased risk of breast cancer compared with...

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PMID: 23378296
DOI: 10.1002/humu.22284

Genes

FOXP3

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