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

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
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.
2045-2322
Eccles, Diana
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Liu, J.
516e902e-000e-4f9c-b9bc-bac18b1f5ade
Prager-van der Smissen, W.J.C.
0ffb06b4-0b17-4512-aae2-dc96194d9042
Collee, J.M.
cc229391-21c8-4905-9226-6709206c39e2
et al.
Eccles, Diana
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Liu, J.
516e902e-000e-4f9c-b9bc-bac18b1f5ade
Prager-van der Smissen, W.J.C.
0ffb06b4-0b17-4512-aae2-dc96194d9042
Collee, J.M.
cc229391-21c8-4905-9226-6709206c39e2

Liu, J., Prager-van der Smissen, W.J.C. and Collee, J.M. , et al. (2020) Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk. Scientific Reports, 10 (1), [9688]. (doi:10.1038/s41598-020-65665-y).

Record type: Article

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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Accepted/In Press date: 22 April 2020
e-pub ahead of print date: 16 June 2020

Identifiers

Local EPrints ID: 442022
URI: http://eprints.soton.ac.uk/id/eprint/442022
ISSN: 2045-2322
PURE UUID: 545eeac4-eea0-4e18-a49a-82ad6b73955a
ORCID for Diana Eccles: ORCID iD orcid.org/0000-0002-9935-3169

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Date deposited: 06 Jul 2020 16:30
Last modified: 26 Nov 2021 06:15

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Contributors

Author: Diana Eccles ORCID iD
Author: J. Liu
Author: W.J.C. Prager-van der Smissen
Author: J.M. Collee
Corporate Author: et al.

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