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

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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; 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; Couch, Fergus J; Czene, Kamila; Daly, Mary B; Devilee, Peter; Dos-Santos-Silva, Isabel; Dwek, Miriam; Eccles, Diana M; Eliassen, A Heather; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; Fritschi, Lin; Gago-Dominguez, Manuela; Gapstur, Susan M; García-Closas, Montserrat; García-Sáenz, José A; Gaudet, Mia M; Giles, Graham G; Goldberg, Mark S; Goldgar, David E; Guénel, Pascal; Haiman, Christopher A; Håkansson, Niclas; Hall, Per; Harrington, Patricia A; Hart, Steven N; Hartman, Mikael; Hillemanns, Peter; Hopper, John L; Hou, Ming-Feng; Hunter, David J; Huo, Dezheng; Ito, Hidemi; Iwasaki, Motoki; Jakimovska, Milena; Jakubowska, Anna; John, Esther M; Kaaks, Rudolf; Kang, Daehee; Keeman, Renske; Khusnutdinova, Elza; Kim, Sung-Won; Kraft, Peter; Kristensen, Vessela N; Kurian, Allison W; Le Marchand, Loic; Li, Jingmei; Lindblom, Annika; Lophatananon, Artitaya; Luben, Robert N; Lubiński, Jan; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Mariapun, Shivaani; Matsuo, Keitaro; Maurer, Tabea; Mavroudis, Dimitrios; Meindl, Alfons; Menon, Usha; Milne, Roger L; Muir, Kenneth; Mulligan, Anna Marie; Neuhausen, Susan L; Nevanlinna, Heli; Offit, Kenneth; Olopade, Olufunmilayo I; Olson, Janet E; Olsson, Håkan; Orr, Nick; Park, Sue K; Peterlongo, Paolo; Peto, Julian; Plaseska-Karanfilska, Dijana; Presneau, Nadege; Rack, Brigitte; Rau-Murthy, Rohini; Rennert, Gad; Rennert, Hedy S; Rhenius, Valerie; Romero, Atocha; Ruebner, Matthias; Saloustros, Emmanouil; Schmutzler, Rita K; Schneeweiss, Andreas; Scott, Christopher; Shah, Mitul; Shen, Chen-Yang; Shu, Xiao-Ou; Simard, Jacques; Sohn, Christof; Southey, Melissa C; Spinelli, John J; Tamimi, Rulla M; Tapper, William J; Teo, Soo H; Terry, Mary Beth; Torres, Diana; Truong, Thérèse; Untch, Michael; Vachon, Celine M; van Asperen, Christi J; Wolk, Alicja; Yamaji, Taiki; Zheng, Wei; Ziogas, Argyrios; Ziv, Elad; Torres-Mejía, Gabriela; Dörk, Thilo; Swerdlow, Anthony J; Hamann, Ute; Schmidt, Marjanka K; Dunning, Alison M; Pharoah, Paul D P; Easton, Douglas F; Hooning, Maartje J; Martens, John W M; Hollestelle, Antoinette; NBCS Collaborators.

In: SCI REP-UK, Vol. 10, No. 1, 16.06.2020, p. 9688.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

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, 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, J-Y, Christiaens, M, Clarke, CL, Couch, FJ, Czene, K, Daly, MB, Devilee, P, Dos-Santos-Silva, I, Dwek, M, Eccles, DM, Eliassen, AH, Fasching, PA, Figueroa, J, Flyger, H, Fritschi, L, Gago-Dominguez, M, Gapstur, SM, García-Closas, M, García-Sáenz, JA, Gaudet, MM, Giles, GG, Goldberg, MS, Goldgar, DE, Guénel, P, Haiman, CA, Håkansson, N, Hall, P, Harrington, PA, Hart, SN, Hartman, M, Hillemanns, P, Hopper, JL, Hou, M-F, Hunter, DJ, Huo, D, Ito, H, Iwasaki, M, Jakimovska, M, Jakubowska, A, John, EM, Kaaks, R, Kang, D, Keeman, R, Khusnutdinova, E, Kim, S-W, Kraft, P, Kristensen, VN, Kurian, AW, Le Marchand, L, Li, J, Lindblom, A, Lophatananon, A, Luben, RN, Lubiński, J, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Mariapun, S, Matsuo, K, Maurer, T, Mavroudis, D, Meindl, A, Menon, U, Milne, RL, Muir, K, Mulligan, AM, Neuhausen, SL, Nevanlinna, H, Offit, K, Olopade, OI, Olson, JE, Olsson, H, Orr, N, Park, SK, Peterlongo, P, Peto, J, Plaseska-Karanfilska, D, Presneau, N, Rack, B, Rau-Murthy, R, Rennert, G, Rennert, HS, Rhenius, V, Romero, A, Ruebner, M, Saloustros, E, Schmutzler, RK, Schneeweiss, A, Scott, C, Shah, M, Shen, C-Y, Shu, X-O, Simard, J, Sohn, C, Southey, MC, Spinelli, JJ, Tamimi, RM, Tapper, WJ, Teo, SH, Terry, MB, Torres, D, Truong, T, Untch, M, Vachon, CM, van Asperen, CJ, Wolk, A, Yamaji, T, Zheng, W, Ziogas, A, Ziv, E, Torres-Mejía, G, Dörk, T, Swerdlow, AJ, Hamann, U, Schmidt, MK, Dunning, AM, Pharoah, PDP, Easton, DF, Hooning, MJ, Martens, JWM, Hollestelle, A & NBCS Collaborators 2020, 'Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk', SCI REP-UK, vol. 10, no. 1, pp. 9688. https://doi.org/10.1038/s41598-020-65665-y, https://doi.org/10.1038/s41598-020-65665-y, https://doi.org/10.1038/s41598-020-65665-y

APA

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., ... NBCS Collaborators (2020). Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk. SCI REP-UK, 10(1), 9688. https://doi.org/10.1038/s41598-020-65665-y, https://doi.org/10.1038/s41598-020-65665-y, https://doi.org/10.1038/s41598-020-65665-y

Vancouver

Liu J, Prager-van der Smissen WJC, Collée JM, Bolla MK, Wang Q, Michailidou K et al. Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk. SCI REP-UK. 2020 Jun 16;10(1):9688. https://doi.org/10.1038/s41598-020-65665-y, https://doi.org/10.1038/s41598-020-65665-y, https://doi.org/10.1038/s41598-020-65665-y

Bibtex

@article{c9cf4df931ad43d68ae3cef8a7f128b8,
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 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 Ji-Yeob Choi and Melissa Christiaens and Clarke, {Christine L} and Couch, {Fergus J} and Kamila Czene and Daly, {Mary B} and Peter Devilee and Isabel Dos-Santos-Silva and Miriam Dwek and Eccles, {Diana M} and Eliassen, {A Heather} and Fasching, {Peter A} and Jonine Figueroa and Henrik Flyger and Lin Fritschi and Manuela Gago-Dominguez and Gapstur, {Susan M} and Montserrat Garc{\'i}a-Closas and Garc{\'i}a-S{\'a}enz, {Jos{\'e} A} and Gaudet, {Mia M} and Giles, {Graham G} and Goldberg, {Mark S} and Goldgar, {David E} and Pascal Gu{\'e}nel and Haiman, {Christopher A} and Niclas H{\aa}kansson and Per Hall and Harrington, {Patricia A} and Hart, {Steven N} and Mikael Hartman and Peter Hillemanns and Hopper, {John L} and Ming-Feng Hou and Hunter, {David J} and Dezheng Huo and Hidemi Ito and Motoki Iwasaki and Milena Jakimovska and Anna Jakubowska and John, {Esther M} and Rudolf Kaaks and Daehee Kang and Renske Keeman and Elza Khusnutdinova and Sung-Won Kim and Peter Kraft and Kristensen, {Vessela N} and Kurian, {Allison W} and {Le Marchand}, Loic and Jingmei Li and Annika Lindblom and Artitaya Lophatananon and Luben, {Robert N} and Jan Lubi{\'n}ski and Arto Mannermaa and Mehdi Manoochehri and Siranoush Manoukian and Sara Margolin and Shivaani Mariapun and Keitaro Matsuo and Tabea Maurer and Dimitrios Mavroudis and Alfons Meindl and Usha Menon and Milne, {Roger L} and Kenneth Muir and Mulligan, {Anna Marie} and Neuhausen, {Susan L} and Heli Nevanlinna and Kenneth Offit and Olopade, {Olufunmilayo I} and Olson, {Janet E} and H{\aa}kan Olsson and Nick Orr and Park, {Sue K} and Paolo Peterlongo and Julian Peto and Dijana Plaseska-Karanfilska and Nadege Presneau and Brigitte Rack and Rohini Rau-Murthy and Gad Rennert and Rennert, {Hedy S} and Valerie Rhenius and Atocha Romero and Matthias Ruebner and Emmanouil Saloustros and Schmutzler, {Rita K} and Andreas Schneeweiss and Christopher Scott and Mitul Shah and Chen-Yang Shen and Xiao-Ou Shu and Jacques Simard and Christof Sohn and Southey, {Melissa C} and Spinelli, {John J} and Tamimi, {Rulla M} and Tapper, {William J} and Teo, {Soo H} and Terry, {Mary Beth} and Diana Torres and Th{\'e}r{\`e}se Truong and Michael Untch and Vachon, {Celine M} and {van Asperen}, {Christi J} and Alicja Wolk and Taiki Yamaji and Wei Zheng and Argyrios Ziogas and Elad Ziv and Gabriela Torres-Mej{\'i}a and Thilo D{\"o}rk and Swerdlow, {Anthony J} and Ute Hamann and Schmidt, {Marjanka K} and Dunning, {Alison M} and Pharoah, {Paul D P} and Easton, {Douglas F} and Hooning, {Maartje J} and Martens, {John W M} and Antoinette Hollestelle and {NBCS Collaborators}",
year = "2020",
month = jun,
day = "16",
doi = "10.1038/s41598-020-65665-y",
language = "English",
volume = "10",
pages = "9688",
journal = "SCI REP-UK",
issn = "2045-2322",
publisher = "NATURE PUBLISHING GROUP",
number = "1",

}

RIS

TY - JOUR

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 - 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 - Couch, Fergus J

AU - Czene, Kamila

AU - Daly, Mary B

AU - Devilee, Peter

AU - Dos-Santos-Silva, Isabel

AU - Dwek, Miriam

AU - Eccles, Diana M

AU - Eliassen, A Heather

AU - Fasching, Peter A

AU - Figueroa, Jonine

AU - Flyger, Henrik

AU - Fritschi, Lin

AU - Gago-Dominguez, Manuela

AU - Gapstur, Susan M

AU - García-Closas, Montserrat

AU - García-Sáenz, José A

AU - Gaudet, Mia M

AU - Giles, Graham G

AU - Goldberg, Mark S

AU - Goldgar, David E

AU - Guénel, Pascal

AU - Haiman, Christopher A

AU - Håkansson, Niclas

AU - Hall, Per

AU - Harrington, Patricia A

AU - Hart, Steven N

AU - Hartman, Mikael

AU - Hillemanns, Peter

AU - Hopper, John L

AU - Hou, Ming-Feng

AU - Hunter, David J

AU - Huo, Dezheng

AU - Ito, Hidemi

AU - Iwasaki, Motoki

AU - Jakimovska, Milena

AU - Jakubowska, Anna

AU - John, Esther M

AU - Kaaks, Rudolf

AU - Kang, Daehee

AU - Keeman, Renske

AU - Khusnutdinova, Elza

AU - Kim, Sung-Won

AU - Kraft, Peter

AU - Kristensen, Vessela N

AU - Kurian, Allison W

AU - Le Marchand, Loic

AU - Li, Jingmei

AU - Lindblom, Annika

AU - Lophatananon, Artitaya

AU - Luben, Robert N

AU - Lubiński, Jan

AU - Mannermaa, Arto

AU - Manoochehri, Mehdi

AU - Manoukian, Siranoush

AU - Margolin, Sara

AU - Mariapun, Shivaani

AU - Matsuo, Keitaro

AU - Maurer, Tabea

AU - Mavroudis, Dimitrios

AU - Meindl, Alfons

AU - Menon, Usha

AU - Milne, Roger L

AU - Muir, Kenneth

AU - Mulligan, Anna Marie

AU - Neuhausen, Susan L

AU - Nevanlinna, Heli

AU - Offit, Kenneth

AU - Olopade, Olufunmilayo I

AU - Olson, Janet E

AU - Olsson, Håkan

AU - Orr, Nick

AU - Park, Sue K

AU - Peterlongo, Paolo

AU - Peto, Julian

AU - Plaseska-Karanfilska, Dijana

AU - Presneau, Nadege

AU - Rack, Brigitte

AU - Rau-Murthy, Rohini

AU - Rennert, Gad

AU - Rennert, Hedy S

AU - Rhenius, Valerie

AU - Romero, Atocha

AU - Ruebner, Matthias

AU - Saloustros, Emmanouil

AU - Schmutzler, Rita K

AU - Schneeweiss, Andreas

AU - Scott, Christopher

AU - Shah, Mitul

AU - Shen, Chen-Yang

AU - Shu, Xiao-Ou

AU - Simard, Jacques

AU - Sohn, Christof

AU - Southey, Melissa C

AU - Spinelli, John J

AU - Tamimi, Rulla M

AU - Tapper, William J

AU - Teo, Soo H

AU - Terry, Mary Beth

AU - Torres, Diana

AU - Truong, Thérèse

AU - Untch, Michael

AU - Vachon, Celine M

AU - van Asperen, Christi J

AU - Wolk, Alicja

AU - Yamaji, Taiki

AU - Zheng, Wei

AU - Ziogas, Argyrios

AU - Ziv, Elad

AU - Torres-Mejía, Gabriela

AU - Dörk, Thilo

AU - Swerdlow, Anthony J

AU - Hamann, Ute

AU - Schmidt, Marjanka K

AU - Dunning, Alison M

AU - Pharoah, Paul D P

AU - Easton, Douglas F

AU - Hooning, Maartje J

AU - Martens, John W M

AU - Hollestelle, Antoinette

AU - NBCS Collaborators

PY - 2020/6/16

Y1 - 2020/6/16

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 - SCORING: Journal article

C2 - 32546843

VL - 10

SP - 9688

JO - SCI REP-UK

JF - SCI REP-UK

SN - 2045-2322

IS - 1

ER -