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. Beckmann; Sabine 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

doi:10.1038/s41598-020-65665-y

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

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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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.

Originalsprog	Engelsk
Artikelnummer	9688
Tidsskrift	Scientific Reports
Vol/bind	10
Udgave nummer	1
ISSN	2045-2322
DOI	https://doi.org/10.1038/s41598-020-65665-y
Status	Udgivet - 2020

Adgang til dokumentet

10.1038/s41598-020-65665-yLicens: CC BY

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer riskForlagets udgivne version, 1,33 MBLicens: CC BY

Citationsformater

Liu, J., Prager - van der Smissen, W. J. C., Collée, J. M., Bolla, M. K., Wang, Q., Michailidou, K., Dennis, J., Ahearn, T. U., Aittomäki, K., Ambrosone, C. B., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Augustinsson, A., Auvinen, P., Becher, H., ... ABCTB Investigators (2020). Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk. Scientific Reports, 10(1), [9688]. https://doi.org/10.1038/s41598-020-65665-y

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk. / Liu, Jingjing; Prager - van der Smissen, Wendy J.C.; Collée, J. Margriet; Bolla, Manjeet K.; Wang, Qin; Michailidou, Kyriaki; Dennis, Joe; Ahearn, Thomas U.; Aittomäki, Kristiina; Ambrosone, Christine B.; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J.; Augustinsson, Annelie; Auvinen, Päivi; Becher, Heiko; Beckmann, Matthias W.; Behrens, Sabine; Bermisheva, Marina; Bernstein, Leslie; Bogdanova, Natalia V.; Bogdanova-Markov, Nadja; Bojesen, Stig E.; Brauch, Hiltrud; Brenner, Hermann; Briceno, Ignacio; Brucker, Sara Y.; Brüning, Thomas; Burwinkel, Barbara; Cai, Qiuyin; Cai, Hui; Campa, Daniele; Canzian, Federico; Castelao, Jose E.; Chang-Claude, Jenny; Chanock, Stephen J.; Choi, Ji Yeob; Christiaens, Melissa; Clarke, Christine L.; Sahlberg, Kristine K.; Børresen-Dale, Anne Lise; Ottestad, Lars; Kåresen, Rolf; Schlichting, Ellen; Holmen, Marit Muri; Sauer, Toril; Haakensen, Vilde; NBCS Collaborators; OSBREAC; ABCTB Investigators.

I: Scientific Reports, Bind 10, Nr. 1, 9688, 2020.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Liu, J, Prager - van der Smissen, WJC, Collée, JM, Bolla, MK, Wang, Q, Michailidou, K, Dennis, J, Ahearn, TU, Aittomäki, K, Ambrosone, CB, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arndt, V, Arnold, N, Aronson, KJ, Augustinsson, A, Auvinen, P, Becher, H, Beckmann, MW, Behrens, S, Bermisheva, M, Bernstein, L, Bogdanova, NV, Bogdanova-Markov, N, Bojesen, SE, Brauch, H, Brenner, H, Briceno, I, Brucker, SY, Brüning, T, Burwinkel, B, Cai, Q, Cai, H, Campa, D, Canzian, F, Castelao, JE, Chang-Claude, J, Chanock, SJ, Choi, JY, Christiaens, M, Clarke, CL, Sahlberg, KK, Børresen-Dale, AL, Ottestad, L, Kåresen, R, Schlichting, E, Holmen, MM, Sauer, T, Haakensen, V, NBCS Collaborators, OSBREAC & ABCTB Investigators 2020, 'Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk', Scientific Reports, bind 10, nr. 1, 9688. https://doi.org/10.1038/s41598-020-65665-y

Liu, Jingjing ; Prager - van der Smissen, Wendy J.C. ; Collée, J. Margriet ; Bolla, Manjeet K. ; Wang, Qin ; Michailidou, Kyriaki ; Dennis, Joe ; Ahearn, Thomas U. ; Aittomäki, Kristiina ; Ambrosone, Christine B. ; Andrulis, Irene L. ; Anton-Culver, Hoda ; Antonenkova, Natalia N. ; Arndt, Volker ; Arnold, Norbert ; Aronson, Kristan J. ; Augustinsson, Annelie ; Auvinen, Päivi ; Becher, Heiko ; Beckmann, Matthias W. ; Behrens, Sabine ; Bermisheva, Marina ; Bernstein, Leslie ; Bogdanova, Natalia V. ; Bogdanova-Markov, Nadja ; Bojesen, Stig E. ; Brauch, Hiltrud ; Brenner, Hermann ; Briceno, Ignacio ; Brucker, Sara Y. ; Brüning, Thomas ; Burwinkel, Barbara ; Cai, Qiuyin ; Cai, Hui ; Campa, Daniele ; Canzian, Federico ; Castelao, Jose E. ; Chang-Claude, Jenny ; Chanock, Stephen J. ; Choi, Ji Yeob ; Christiaens, Melissa ; Clarke, Christine L. ; Sahlberg, Kristine K. ; Børresen-Dale, Anne Lise ; Ottestad, Lars ; Kåresen, Rolf ; Schlichting, Ellen ; Holmen, Marit Muri ; Sauer, Toril ; Haakensen, Vilde ; NBCS Collaborators ; OSBREAC ; ABCTB Investigators. / Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk. I: Scientific Reports. 2020 ; Bind 10, Nr. 1.

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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 = 0.859–1.246, 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.",

author = "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 Vilde Haakensen and {NBCS Collaborators} and OSBREAC and {ABCTB Investigators}",

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

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

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 - Haakensen, Vilde

AU - NBCS Collaborators

AU - OSBREAC

AU - ABCTB Investigators

PY - 2020

Y1 - 2020

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.

U2 - 10.1038/s41598-020-65665-y

DO - 10.1038/s41598-020-65665-y

M3 - Journal article

C2 - 32546843

AN - SCOPUS:85086686420

VL - 10

JO - Scientific Reports

JF - Scientific Reports

SN - 2045-2322

IS - 1

M1 - 9688

ER -