Recently, the HOXB13 gene has been shown to be a susceptibility gene for prostate cancer. HOXB13 is overexpressed in breast cancer tissues and HOXB13 expression in combination with low expression of IL17BR is predictive for a tamoxifen response in ER-positive breast cancers. Based on observations, we hypothesized that the HOXB13 p.Gly84Glu mutation might be associated with breast cancer risk. We genotyped this mutation in the germline DNA of 4,037 women with breast cancer (including 1,082 familial cases) and in 2,762 controls from Canada and Poland. Seven heterozygous carriers of the HOXB13 p.Gly84Glu mutation were found in the cases (0.17 %) compared to four carriers among the controls (0.14 %; OR = 1.2, 95 % CI = 0.34-4.1, p = 1.0). Only one of the seven carriers had a family history of breast cancer. This study does not support the hypothesis that women who carry the HOXB13 Gly84Glu mutation are at increased risk of breast cancer.
Cites: J Clin Oncol. 2007 Feb 20;25(6):662-817308270
Cites: J Natl Cancer Inst. 2012 Aug 22;104(16):1260-222781434
Cites: Nat Genet. 2006 Nov;38(11):1239-4117033622
Cites: J Clin Oncol. 2006 Oct 1;24(28):4611-917008703
Cites: Cancer Res. 2004 Dec 15;64(24):9185-9215604291
Cites: Nature. 1995 Dec 21-28;378(6559):789-928524414