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

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NBCS Collaborators , ABCTB Investigators , Liu , J , van der Smissen , W J C P , Collee , J M , Aittomäki , K & Nevanlinna , H 2020 , ' Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk ' , Scientific Reports , vol. 10 , no. 1 , 9688 . https://doi.org/10.1038/s41598-020-65665-y

Title: Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
Author: NBCS Collaborators; ABCTB Investigators; Liu, Jingjing; van der Smissen, Wendy J. C. Prager; Collee, J. Margriet; Aittomäki, Kristiina; Nevanlinna, Heli
Contributor: University of Helsinki, Medicum
University of Helsinki, HUS Gynecology and Obstetrics
Date: 2020-06-16
Language: eng
Number of pages: 14
Belongs to series: Scientific Reports
ISSN: 2045-2322
URI: http://hdl.handle.net/10138/319462
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.
Subject: 2-GENE EXPRESSION RATIO
P.GLY84GLU MUTATION
G84E MUTATION
PROSTATE
SUSCEPTIBILITY
TAMOXIFEN
GENE
ASSOCIATION
CONSORTIUM
CHROMATIN
3122 Cancers
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