The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
Germline Mutations in HOXB13 and Prostate-Cancer Risk
Open accessAbstract
BACKGROUND: Family history is a significant risk factor for prostate cancer, although the molecular basis for this association is poorly understood. Linkage studies have implicated chromosome 17q21-22 as a possible location of a prostate-cancer susceptibility gene. METHODS: We screened more than 200 genes in the 17q21-22 region by sequencing germline DNA from 94 unrelated patients with prostate cancer from families selected for linkage to the candidate region. We tested family members, additional case subjects, and control subjects to characterize the frequency of the identified mutations. RESULTS: Probands from four families were discovered to have a rare but recurrent mutation (G84E) in HOXB13 (rs138213197), a homeobox transcription factor gene that is important in prostate development. All 18 men with prostate cancer and available DNA in these four families carried the mutation. The carrier rate of the G84E mutation was increased by a factor of approximately 20 in 5083 unrelated subjects of European descent who had prostate cancer, with the mutation found in 72 subjects (1.4%), as compared with 1 in 1401 control subjects (0.1%) (P=8.5x10(-7)). The mutation was significantly more common in men with early-onset, familial prostate cancer (3.1%) than in those with late-onset, nonfamilial prostate cancer (0.6%) (P=2.0x10(-6)). CONCLUSIONS: The novel HOXB13 G84E variant is associated with a significantly increased risk of hereditary prostate cancer. Although the variant accounts for a small fraction of all prostate cancers, this finding has implications for prostate-cancer risk assessment and may provide new mechanistic insights into this common cancer. (Funded by the National Institutes of Health and others.).
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Self-citationSeven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study
The UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology, Kote-Jarai, Z., The UK ProtecT Study Collaborators, T. A. P. C. B., The PRACTICAL Consortium, Olama, A. A. A., Giles, G. G., Severi, G., Schleutker, J., Weischer, M., Campa, D., et al. (2011) · Nature Genetics · doi:10.1038/ng.882 · Cited by 289
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Prostate Cancer, Version 2.2019, NCCN Clinical Practice Guidelines in Oncology
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The androgen receptor cistrome is extensively reprogrammed in human prostate tumorigenesis
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Tumor suppressor p16 INK4A is necessary for survival of cervical carcinoma cell lines
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Influence of Androgens on Immunity to Self and Foreign: Effects on Immunity and Cancer
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“This finding was corroborated by a study of germline mutations, which identified one mutation in the homeobox transcription factor (HOXB13) known to interact with AR, leading to a 20-fold increased risk of inherited prostate cancer (122, 123).”
Background
Metadata
- Authors
- Ewing, C. M., Ray, A. M., Lange, E. M., Zuhlke, K. A., Robbins, C. M., Tembe, W. D., Wiley, K. E., Isaacs, S. D., Johng, D., Wang, Y., Bizon, C., Yan, G., Gielzak, M., Partin, A. W., Shanmugam, V., Izatt, T., Sinari, S., Craig, D. W., Zheng, S. L., Walsh, P. C., Montie, J. E., Xu, J., Carpten, J. D., Isaacs, W. B., & Cooney, K. A.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2012-01-12
- Volume
- 366
- Issue
- 2
- Pages
- 141-149
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2178232667
- Cited by
- 658
- References
- 31
- FWCI
- 43.64
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Ewing, C. M., Ray, A. M., Lange, E. M., Zuhlke, K. A., Robbins, C. M., Tembe, W. D., Wiley, K. E., Isaacs, S. D., Johng, D., Wang, Y., Bizon, C., Yan, G., Gielzak, M., Partin, A. W., Shanmugam, V., Izatt, T., Sinari, S., Craig, D. W., Zheng, S. L., . . . Cooney, K. A. (2012). Germline Mutations in HOXB13 and Prostate-Cancer Risk. New England Journal of Medicine. https://doi.org/10.1056/nejmoa1110000
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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