title: The HOXB13 p.Gly84Glu mutation is not associated with the risk of breast cancer.
abstract: 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.
authors.affiliation: Women's College Research Institute, Women's College Hospital, University of Toronto, Toronto, Canada.
authors.forename: Mohammad R
authors.initials: MR
authors.lastname: Akbari
authors.forename: Wojciech
authors.initials: W
authors.lastname: Kluźniak
authors.forename: Rachelle
authors.initials: R
authors.lastname: Rodin
authors.forename: Song
authors.initials: S
authors.lastname: Li
authors.forename: Dominika
authors.initials: D
authors.lastname: Wokołorczyk
authors.forename: Robert
authors.initials: R
authors.lastname: Royer
authors.forename: Aniruddh
authors.initials: A
authors.lastname: Kashyap
authors.forename: Janusz
authors.initials: J
authors.lastname: Menkiszak
authors.forename: Jan
authors.initials: J
authors.lastname: Lubinski
authors.forename: Steven A
authors.initials: SA
authors.lastname: Narod
authors.forename: Cezary
authors.initials: C
authors.lastname: Cybulski
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics*; D002170:Canada; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D011044:Poland; D055815:Young Adult
chemical_list: C484414:HOXB13 protein, human; D018398:Homeodomain Proteins