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

NBCS Collaborators; OSBREAC; ABCTB Investigators

doi:10.1038/s41598-020-65665-y

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

NBCS Collaborators
, OSBREAC
, ABCTB Investigators

Erasmus MC Cancer Institute
Zhengzhou University
Erasmus University Rotterdam
University of Cambridge
Cyprus Institute of Neurology and Genetics
National Cancer Institute (NCI)
Helsinki University Hospital
Roswell Park Cancer Institute
Samuel Lunenfeld Research Institute
University of Toronto
University of California, Irvine
The N.N. Alexandrov Research Institute of Oncology and Medical Radiology
German Cancer Research Center
Kiel University
Queen's University
Lund University
University of Eastern Finland
University of Hamburg
Charité – Universitätsmedizin Berlin
Friedrich-Alexander University Erlangen-Nürnberg
Russian Academy of Sciences
City of Hope National Med Center
Hannover Medical School
University of Münster
Copenhagen University Hospital – Herlev and Gentofte
University of Copenhagen
Robert Bosch Foundation
University of Tübingen
Universidad de la Sabana
Ruhr University Bochum
Heidelberg University
Vanderbilt University
University of Pisa
Instituto de Investigacion Sanitaria Galicia Sur (IISGS)
Seoul National University
Seoul National University Cancer Research Institute
University Hospitals Leuven
The University of Sydney
University of Oslo
Vestre Viken Hospital
Australian Breast Cancer Tissue Bank
Norwegian University of Science and Technology
Østfold Hospital
Cancer Registry of Norway Institute of Population-Based Cancer Research
Oslo Metropolitan University
University of Tromsø
Mayo Clinic Rochester, MN
Karolinska Institutet
Fox Chase Cancer Center
Leiden University
London School of Hygiene and Tropical Medicine
University of Westminster
University of Southampton, Faculty of Medicine
Brigham and Women’s Hospital
Harvard University
University of California at Los Angeles
University of Edinburgh
Curtin University
Complejo Hospitalario Universitario de Santiago
Moores Cancer Center
American Cancer Society
Hospital Clínico San Carlos de Madrid
Cancer Council Victoria
Melbourne School of Population and Global Health
Monash University
McGill University
McGill University Health Centre, Royal Victoria Hospital
University of Utah
Occupational and Social Determinants of Health
Keck School of Medicine of USC
MOH Holdings Pte Ltd.
Kaohsiung Municipal Hsiao-Kang Hospital
University of Oxford
The University of Chicago
University of Technology Sydney
Newcastle University
Hunter Medical Research Institute, Australia
Kolling Institute of Medical Research
University of Canberra
Canberra Hospital
Australian National University
Cancer Institute NSW
University of Queensland
Aichi Cancer Center Hospital and Research Institute
Nagoya University
National Cancer Center Japan
MASA
Pomeranian Medical University in Szczecin
Stanford University
Antoni van Leeuwenhoek Hospital
St. Petersburg State University
Daerim Saint Mary’s Hospital
Stanford University School of Medicine
University of Hawai'i at Mānoa
Genome Institute of Singapore
Karolinska University Hospital
University of Manchester
IRCCS Fondazione Istituto Nazionale per lo studio e la cura dei tumori - Milano
Cancer Research Malaysia
Heraklion University Hospital
Ludwig Maximilian University of Munich
University College London
University Health Network
Memorial Sloan-Kettering Cancer Center
Institute of Cancer Research
Queen's University Belfast
FIRC Institute of Molecular Oncology
Ulm University
Carmel Medical Center and Technion Faculty of Medicine
Hospital Puerta de Hierro
University Hospital of Larissa
University of Cologne
Academia Sinica - Institute of Biomedical Sciences
China Medical University Taichung
Université Laval
University of Melbourne
BC Cancer
University of British Columbia
University of Malaya
Mailman School of Public Health
Helios Clinics Berlin-Buch
Uppsala University
University of California at San Francisco
Instituto Nacional de Salud Publica

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6 Citas (Scopus)

Resumen

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.

Idioma original	Inglés
Número de artículo	9688
Publicación	Scientific Reports
Volumen	10
N.º	1
DOI	https://doi.org/10.1038/s41598-020-65665-y
Estado	Publicada - 01 dic 2020

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@article{2f20570e68b342cdb6c8c4e9bf945aa6,

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

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{\textendash}1.246, P = 0.718 and OR = 0.798, 95\% CI = 0.482{\textendash}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.",

author = "\{NBCS Collaborators\} and OSBREAC and \{ABCTB Investigators\} and Jingjing Liu and Prager - van der Smissen, \{Wendy J.C.\} and Coll{\'e}e, \{J. Margriet\} and Bolla, \{Manjeet K.\} and Qin Wang and Kyriaki Michailidou and Joe Dennis and Ahearn, \{Thomas U.\} and Kristiina Aittom{\"a}ki and Ambrosone, \{Christine B.\} and Andrulis, \{Irene L.\} and Hoda Anton-Culver and Antonenkova, \{Natalia N.\} and Volker Arndt and Norbert Arnold and Aronson, \{Kristan J.\} and Annelie Augustinsson and P{\"a}ivi Auvinen and Heiko Becher and Beckmann, \{Matthias W.\} and Sabine Behrens and Marina Bermisheva and Leslie Bernstein and Bogdanova, \{Natalia V.\} and Nadja Bogdanova-Markov and Bojesen, \{Stig E.\} and Hiltrud Brauch and Hermann Brenner and Ignacio Briceno and Brucker, \{Sara Y.\} and Thomas Br{\"u}ning and Barbara Burwinkel and Qiuyin Cai and Hui Cai and Daniele Campa and Federico Canzian and Castelao, \{Jose E.\} and Jenny Chang-Claude and Chanock, \{Stephen J.\} and Choi, \{Ji Yeob\} and Melissa Christiaens and Clarke, \{Christine L.\} and Sahlberg, \{Kristine K.\} and B{\o}rresen-Dale, \{Anne Lise\} and Lars Ottestad and Rolf K{\aa}resen and Ellen Schlichting and Holmen, \{Marit Muri\} and Toril Sauer and Diana Torres",

note = "Publisher Copyright: {\textcopyright} 2020, The Author(s).",

year = "2020",

month = dec,

day = "1",

doi = "10.1038/s41598-020-65665-y",

language = "English",

volume = "10",

journal = "Scientific Reports",

issn = "2045-2322",

publisher = "Nature Research",

number = "1",

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TY - JOUR

T1 - Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

AU - NBCS Collaborators

AU - OSBREAC

AU - ABCTB Investigators

AU - Liu, Jingjing

AU - Prager - van der Smissen, Wendy J.C.

AU - Collée, J. Margriet

AU - Bolla, Manjeet K.

AU - Wang, Qin

AU - Michailidou, Kyriaki

AU - Dennis, Joe

AU - Ahearn, Thomas U.

AU - Aittomäki, Kristiina

AU - Ambrosone, Christine B.

AU - Andrulis, Irene L.

AU - Anton-Culver, Hoda

AU - Antonenkova, Natalia N.

AU - Arndt, Volker

AU - Arnold, Norbert

AU - Aronson, Kristan J.

AU - Augustinsson, Annelie

AU - Auvinen, Päivi

AU - Becher, Heiko

AU - Beckmann, Matthias W.

AU - Behrens, Sabine

AU - Bermisheva, Marina

AU - Bernstein, Leslie

AU - Bogdanova, Natalia V.

AU - Bogdanova-Markov, Nadja

AU - Bojesen, Stig E.

AU - Brauch, Hiltrud

AU - Brenner, Hermann

AU - Briceno, Ignacio

AU - Brucker, Sara Y.

AU - Brüning, Thomas

AU - Burwinkel, Barbara

AU - Cai, Qiuyin

AU - Cai, Hui

AU - Campa, Daniele

AU - Canzian, Federico

AU - Castelao, Jose E.

AU - Chang-Claude, Jenny

AU - Chanock, Stephen J.

AU - Choi, Ji Yeob

AU - Christiaens, Melissa

AU - Clarke, Christine L.

AU - Sahlberg, Kristine K.

AU - Børresen-Dale, Anne Lise

AU - Ottestad, Lars

AU - Kåresen, Rolf

AU - Schlichting, Ellen

AU - Holmen, Marit Muri

AU - Sauer, Toril

AU - Torres, Diana

PY - 2020/12/1

Y1 - 2020/12/1

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/85086686420

U2 - 10.1038/s41598-020-65665-y

DO - 10.1038/s41598-020-65665-y

M3 - Article

C2 - 32546843

AN - SCOPUS:85086686420

SN - 2045-2322

VL - 10

JO - Scientific Reports

JF - Scientific Reports

IS - 1

M1 - 9688

ER -

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

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