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Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk.

TitleGermline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk.
Publication TypeJournal Article
Year of Publication2020
AuthorsLiu J, van der Smissen WJCPrager, J Collée M, Bolla MK, Wang Q, Michailidou K, Dennis J, Ahearn TU, Aittomäki K, Ambrosone CB et al.
Corporate AuthorsNBCS Collaborators, ABCTB Investigators
JournalSci Rep
Volume10
Issue1
Pagination9688
Date Published2020 Jun 16
ISSN2045-2322
Abstract

In breast cancer, high levels of homeobox protein Hox-B13 (HOXB13) have been associated with disease progression of ER-positive breast cancer patients and resistance to tamoxifen treatment. Since HOXB13 p.G84E is a prostate cancer risk allele, we evaluated the association between HOXB13 germline mutations and breast cancer risk in a previous study consisting of 3,270 familial non-BRCA1/2 breast cancer cases and 2,327 controls from the Netherlands. Although both recurrent HOXB13 mutations p.G84E and p.R217C were not associated with breast cancer risk, the risk estimation for p.R217C was not very precise. To provide more conclusive evidence regarding the role of HOXB13 in breast cancer susceptibility, we here evaluated the association between HOXB13 mutations and increased breast cancer risk within 81 studies of the international Breast Cancer Association Consortium containing 68,521 invasive breast cancer patients and 54,865 controls. Both HOXB13 p.G84E and p.R217C did not associate with the development of breast cancer in European women, neither in the overall analysis (OR = 1.035, 95% CI = 0.859-1.246, P = 0.718 and OR = 0.798, 95% CI = 0.482-1.322, P = 0.381 respectively), nor in specific high-risk subgroups or breast cancer subtypes. Thus, although involved in breast cancer progression, HOXB13 is not a material breast cancer susceptibility gene.

DOI10.1038/s41598-020-65665-y
Alternate JournalSci Rep
PubMed ID32546843
PubMed Central IDPMC7297796
Division: 
Epidemiology
Category: 
Faculty Publication