Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk.
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, J-Y
Christiaens, M
Clarke, CL
NBCS Collaborators,
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
ABCTB Investigators,
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
- Publisher:
- Springer Science and Business Media LLC
- Publication Type:
- Journal Article
- Citation:
- Scientific reports, 2020, 10, (1), pp. 9688
- Issue Date:
- 2020-06-16
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Full metadata record
Field | Value | Language |
---|---|---|
dc.contributor.author | Liu, J | |
dc.contributor.author | Prager-van der Smissen, WJC | |
dc.contributor.author | Collée, JM | |
dc.contributor.author | Bolla, MK | |
dc.contributor.author | Wang, Q | |
dc.contributor.author | Michailidou, K | |
dc.contributor.author | Dennis, J | |
dc.contributor.author | Ahearn, TU | |
dc.contributor.author | Aittomäki, K | |
dc.contributor.author | Ambrosone, CB | |
dc.contributor.author | Andrulis, IL | |
dc.contributor.author | Anton-Culver, H | |
dc.contributor.author | Antonenkova, NN | |
dc.contributor.author | Arndt, V | |
dc.contributor.author | Arnold, N | |
dc.contributor.author | Aronson, KJ | |
dc.contributor.author | Augustinsson, A | |
dc.contributor.author | Auvinen, P | |
dc.contributor.author | Becher, H | |
dc.contributor.author | Beckmann, MW | |
dc.contributor.author | Behrens, S | |
dc.contributor.author | Bermisheva, M | |
dc.contributor.author | Bernstein, L | |
dc.contributor.author | Bogdanova, NV | |
dc.contributor.author | Bogdanova-Markov, N | |
dc.contributor.author | Bojesen, SE | |
dc.contributor.author | Brauch, H | |
dc.contributor.author | Brenner, H | |
dc.contributor.author | Briceno, I | |
dc.contributor.author | Brucker, SY | |
dc.contributor.author | Brüning, T | |
dc.contributor.author | Burwinkel, B | |
dc.contributor.author | Cai, Q | |
dc.contributor.author | Cai, H | |
dc.contributor.author | Campa, D | |
dc.contributor.author | Canzian, F | |
dc.contributor.author | Castelao, JE | |
dc.contributor.author | Chang-Claude, J | |
dc.contributor.author | Chanock, SJ | |
dc.contributor.author | Choi, J-Y | |
dc.contributor.author | Christiaens, M | |
dc.contributor.author | Clarke, CL | |
dc.contributor.author | NBCS Collaborators, | |
dc.contributor.author | Couch, FJ | |
dc.contributor.author | Czene, K | |
dc.contributor.author | Daly, MB | |
dc.contributor.author | Devilee, P | |
dc.contributor.author | Dos-Santos-Silva, I | |
dc.contributor.author | Dwek, M | |
dc.contributor.author | Eccles, DM | |
dc.contributor.author | Eliassen, AH | |
dc.contributor.author | Fasching, PA | |
dc.contributor.author | Figueroa, J | |
dc.contributor.author | Flyger, H | |
dc.contributor.author | Fritschi, L | |
dc.contributor.author | Gago-Dominguez, M | |
dc.contributor.author | Gapstur, SM | |
dc.contributor.author | García-Closas, M | |
dc.contributor.author | García-Sáenz, JA | |
dc.contributor.author | Gaudet, MM | |
dc.contributor.author | Giles, GG | |
dc.contributor.author | Goldberg, MS | |
dc.contributor.author | Goldgar, DE | |
dc.contributor.author | Guénel, P | |
dc.contributor.author | Haiman, CA | |
dc.contributor.author | Håkansson, N | |
dc.contributor.author | Hall, P | |
dc.contributor.author | Harrington, PA | |
dc.contributor.author | Hart, SN | |
dc.contributor.author | Hartman, M | |
dc.contributor.author | Hillemanns, P | |
dc.contributor.author | Hopper, JL | |
dc.contributor.author | Hou, M-F | |
dc.contributor.author | Hunter, DJ | |
dc.contributor.author | Huo, D | |
dc.contributor.author | ABCTB Investigators, | |
dc.contributor.author | Ito, H | |
dc.contributor.author | Iwasaki, M | |
dc.contributor.author | Jakimovska, M | |
dc.contributor.author | Jakubowska, A | |
dc.contributor.author | John, EM | |
dc.contributor.author | Kaaks, R | |
dc.contributor.author | Kang, D | |
dc.contributor.author | Keeman, R | |
dc.contributor.author | Khusnutdinova, E | |
dc.contributor.author | Kim, S-W | |
dc.contributor.author | Kraft, P | |
dc.contributor.author | Kristensen, VN | |
dc.contributor.author | Kurian, AW | |
dc.contributor.author | Le Marchand, L | |
dc.contributor.author | Li, J | |
dc.contributor.author | Lindblom, A | |
dc.contributor.author | Lophatananon, A | |
dc.contributor.author | Luben, RN | |
dc.contributor.author | Lubiński, J | |
dc.contributor.author | Mannermaa, A | |
dc.contributor.author | Manoochehri, M | |
dc.contributor.author | Manoukian, S | |
dc.contributor.author | Margolin, S | |
dc.contributor.author | Mariapun, S | |
dc.contributor.author | Matsuo, K | |
dc.contributor.author | Maurer, T | |
dc.contributor.author | Mavroudis, D | |
dc.contributor.author | Meindl, A | |
dc.contributor.author | Menon, U | |
dc.contributor.author | Milne, RL | |
dc.contributor.author | Muir, K | |
dc.contributor.author | Mulligan, AM | |
dc.contributor.author | Neuhausen, SL | |
dc.contributor.author | Nevanlinna, H | |
dc.contributor.author | Offit, K | |
dc.contributor.author | Olopade, OI | |
dc.contributor.author | Olson, JE | |
dc.contributor.author | Olsson, H | |
dc.contributor.author | Orr, N | |
dc.contributor.author | Park, SK | |
dc.contributor.author | Peterlongo, P | |
dc.contributor.author | Peto, J | |
dc.contributor.author | Plaseska-Karanfilska, D | |
dc.contributor.author | Presneau, N | |
dc.contributor.author | Rack, B | |
dc.contributor.author | Rau-Murthy, R | |
dc.contributor.author | Rennert, G | |
dc.contributor.author | Rennert, HS | |
dc.contributor.author | Rhenius, V | |
dc.contributor.author | Romero, A | |
dc.contributor.author | Ruebner, M | |
dc.contributor.author | Saloustros, E | |
dc.contributor.author | Schmutzler, RK | |
dc.contributor.author | Schneeweiss, A | |
dc.contributor.author | Scott, C | |
dc.contributor.author | Shah, M | |
dc.contributor.author | Shen, C-Y | |
dc.contributor.author | Shu, X-O | |
dc.contributor.author | Simard, J | |
dc.contributor.author | Sohn, C | |
dc.contributor.author | Southey, MC | |
dc.contributor.author | Spinelli, JJ | |
dc.contributor.author | Tamimi, RM | |
dc.contributor.author | Tapper, WJ | |
dc.contributor.author | Teo, SH | |
dc.contributor.author | Terry, MB | |
dc.contributor.author | Torres, D | |
dc.contributor.author | Truong, T | |
dc.contributor.author | Untch, M | |
dc.contributor.author | Vachon, CM | |
dc.contributor.author | van Asperen, CJ | |
dc.contributor.author | Wolk, A | |
dc.contributor.author | Yamaji, T | |
dc.contributor.author | Zheng, W | |
dc.contributor.author | Ziogas, A | |
dc.contributor.author | Ziv, E | |
dc.contributor.author | Torres-Mejía, G | |
dc.contributor.author | Dörk, T | |
dc.contributor.author | Swerdlow, AJ | |
dc.contributor.author | Hamann, U | |
dc.contributor.author | Schmidt, MK | |
dc.contributor.author | Dunning, AM | |
dc.contributor.author | Pharoah, PDP | |
dc.contributor.author | Easton, DF | |
dc.contributor.author | Hooning, MJ | |
dc.contributor.author | Martens, JWM | |
dc.contributor.author | Hollestelle, A | |
dc.date.accessioned | 2021-03-23T06:56:26Z | |
dc.date.available | 2020-04-22 | |
dc.date.available | 2021-03-23T06:56:26Z | |
dc.date.issued | 2020-06-16 | |
dc.identifier.citation | Scientific reports, 2020, 10, (1), pp. 9688 | |
dc.identifier.issn | 2045-2322 | |
dc.identifier.issn | 2045-2322 | |
dc.identifier.uri | http://hdl.handle.net/10453/147488 | |
dc.description.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. | |
dc.format | Electronic | |
dc.language | eng | |
dc.publisher | Springer Science and Business Media LLC | |
dc.relation.ispartof | Scientific reports | |
dc.relation.isbasedon | 10.1038/s41598-020-65665-y | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.rights | This is a post-peer-review, pre-copyedit version of an article published in Scientific reports. The final authenticated version is available online at: https://dx.doi.org/10.1038/s41598-020-65665-y. | en_US |
dc.subject.mesh | Humans | |
dc.subject.mesh | Breast Neoplasms | |
dc.subject.mesh | Genetic Predisposition to Disease | |
dc.subject.mesh | Homeodomain Proteins | |
dc.subject.mesh | Risk Factors | |
dc.subject.mesh | Germ-Line Mutation | |
dc.subject.mesh | Middle Aged | |
dc.subject.mesh | Female | |
dc.subject.mesh | Genotyping Techniques | |
dc.subject.mesh | Breast Neoplasms | |
dc.subject.mesh | Female | |
dc.subject.mesh | Genetic Predisposition to Disease | |
dc.subject.mesh | Genotyping Techniques | |
dc.subject.mesh | Germ-Line Mutation | |
dc.subject.mesh | Homeodomain Proteins | |
dc.subject.mesh | Humans | |
dc.subject.mesh | Middle Aged | |
dc.subject.mesh | Risk Factors | |
dc.title | Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk. | |
dc.type | Journal Article | |
utslib.citation.volume | 10 | |
utslib.location.activity | England | |
pubs.organisational-group | /University of Technology Sydney | |
pubs.organisational-group | /University of Technology Sydney/Faculty of Science | |
pubs.organisational-group | /University of Technology Sydney/Strength - CHT - Health Technologies | |
pubs.organisational-group | /University of Technology Sydney/Faculty of Science/School of Life Sciences | |
utslib.copyright.status | open_access | * |
dc.date.updated | 2021-03-23T06:56:19Z | |
pubs.issue | 1 | |
pubs.publication-status | Published | |
pubs.volume | 10 | |
utslib.citation.issue | 1 |
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.
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