Association of a HOXB13 Variant with Breast Cancer

Abstract

HOXB13 mutations were recently described in familial prostate cancer. In this study, the prevalence of a mutation in HOXB13 was seven times as high among families of patients with breast cancer as among controls. The affected women did not have BRCA1/2 mutations. TO THE EDITOR: The role of homeobox 13 (HOXB13) in hormone-resistant breast cancer has been elucidated only recently. A missense mutation (c.251G→A; p.G84E; rs138213197) in HOXB13 associated with prostate cancer has been reported.1 We compared the frequency of rs138213197 C-T heterozygotes in 1170 patients with familial breast cancer (including 293 patients of Ashkenazi Jewish ancestry) and wild-type BRCA1 and BRCA2 mutations, 1053 patients with sporadic breast cancer (who were not tested for BRCA1/2), 1052 patients with colon cancer, and 1650 healthy controls. Most patients with breast cancer (70%) were white women with a mean age at diagnosis . . .