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

Jingjing Liu, Wendy J.C. Prager - van der Smissen, J. Margriet Collée, Manjeet K. Bolla, Qin Wang, Kyriaki Michailidou, Joe Dennis, Thomas U. Ahearn, Kristiina Aittomäki, Christine B. Ambrosone, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Volker Arndt, Norbert Arnold, Kristan J. Aronson, Annelie Augustinsson, Päivi Auvinen, Heiko Becher, Matthias W. BeckmannSabine Behrens, Marina Bermisheva, Leslie Bernstein, Natalia V. Bogdanova, Nadja Bogdanova-Markov, Stig E. Bojesen, Hiltrud Brauch, Hermann Brenner, Ignacio Briceno, Sara Y. Brucker, Thomas Brüning, Barbara Burwinkel, Qiuyin Cai, Hui Cai, Daniele Campa, Federico Canzian, Jose E. Castelao, Jenny Chang-Claude, Stephen J. Chanock, Ji Yeob Choi, Melissa Christiaens, Christine L. Clarke, Kristine K. Sahlberg, Anne Lise Børresen-Dale, Lars Ottestad, Rolf Kåresen, Ellen Schlichting, Marit Muri Holmen, Toril Sauer, Vilde Haakensen, NBCS Collaborators, OSBREAC, ABCTB Investigators

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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.

OriginalsprogEngelsk
Artikelnummer9688
TidsskriftScientific Reports
Vol/bind10
Udgave nummer1
ISSN2045-2322
DOI
StatusUdgivet - 2020

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