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The HOXB13 G84E Mutation Is Associated with an Increased Risk for Prostate Cancer and Other Malignancies.

Publication ,  Journal Article
Beebe-Dimmer, JL; Hathcock, M; Yee, C; Okoth, LA; Ewing, CM; Isaacs, WB; Cooney, KA; Thibodeau, SN
Published in: Cancer Epidemiol Biomarkers Prev
September 2015

BACKGROUND: A rare nonconservative substitution (G84E) in the HOXB13 gene has been shown to be associated with risk of prostate cancer. DNA samples from male patients included in the Mayo Clinic Biobank (MCB) were genotyped to determine the frequency of the G84E mutation and its association with various cancers. METHODS: Subjects were genotyped using a custom TaqMan (Applied Biosystems) assay for G84E (rs138213197). In addition to donating a blood specimen, all MCB participants completed a baseline questionnaire to collect information on medical history and family history of cancer. RESULTS: Forty-nine of 9,012 male patients were carriers of G84E (0.5%). Thirty-one percent (n = 2,595) of participants had been diagnosed with cancer, including 51.1% of G84E carriers compared with just 30.6% of noncarriers (P = 0.004). G84E was most frequently observed among men with prostate cancer compared with men without cancer (P < 0.0001). However, the mutation was also more commonly observed in men with bladder cancer (P = 0.06) and leukemia (P = 0.01). G84E carriers were more likely to have a positive family history of prostate cancer in a first-degree relative compared to noncarriers (36.2% vs. 16.0%, P = 0.0003). CONCLUSIONS: Our study confirms the association between the HOXB13 G84E variant and prostate cancer and suggests a novel association between G84E and leukemia and a suggestive association with bladder cancer. Future investigation is warranted to confirm these associations in order to improve our understanding of the role of germline HOXB13 mutations in human cancer. IMPACT: The associations between HOXB13 and prostate, leukemia, and bladder suggest that this gene is important in carcinogenesis.

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Published In

Cancer Epidemiol Biomarkers Prev

DOI

EISSN

1538-7755

Publication Date

September 2015

Volume

24

Issue

9

Start / End Page

1366 / 1372

Location

United States

Related Subject Headings

  • Young Adult
  • Urinary Bladder Neoplasms
  • Risk Factors
  • Prostatic Neoplasms
  • Pedigree
  • Mutation Rate
  • Mutation
  • Middle Aged
  • Male
  • Leukemia
 

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Beebe-Dimmer, J. L., Hathcock, M., Yee, C., Okoth, L. A., Ewing, C. M., Isaacs, W. B., … Thibodeau, S. N. (2015). The HOXB13 G84E Mutation Is Associated with an Increased Risk for Prostate Cancer and Other Malignancies. Cancer Epidemiol Biomarkers Prev, 24(9), 1366–1372. https://doi.org/10.1158/1055-9965.EPI-15-0247
Beebe-Dimmer, Jennifer L., Matthew Hathcock, Cecilia Yee, Linda A. Okoth, Charles M. Ewing, William B. Isaacs, Kathleen A. Cooney, and Stephen N. Thibodeau. “The HOXB13 G84E Mutation Is Associated with an Increased Risk for Prostate Cancer and Other Malignancies.Cancer Epidemiol Biomarkers Prev 24, no. 9 (September 2015): 1366–72. https://doi.org/10.1158/1055-9965.EPI-15-0247.
Beebe-Dimmer JL, Hathcock M, Yee C, Okoth LA, Ewing CM, Isaacs WB, et al. The HOXB13 G84E Mutation Is Associated with an Increased Risk for Prostate Cancer and Other Malignancies. Cancer Epidemiol Biomarkers Prev. 2015 Sep;24(9):1366–72.
Beebe-Dimmer, Jennifer L., et al. “The HOXB13 G84E Mutation Is Associated with an Increased Risk for Prostate Cancer and Other Malignancies.Cancer Epidemiol Biomarkers Prev, vol. 24, no. 9, Sept. 2015, pp. 1366–72. Pubmed, doi:10.1158/1055-9965.EPI-15-0247.
Beebe-Dimmer JL, Hathcock M, Yee C, Okoth LA, Ewing CM, Isaacs WB, Cooney KA, Thibodeau SN. The HOXB13 G84E Mutation Is Associated with an Increased Risk for Prostate Cancer and Other Malignancies. Cancer Epidemiol Biomarkers Prev. 2015 Sep;24(9):1366–1372.

Published In

Cancer Epidemiol Biomarkers Prev

DOI

EISSN

1538-7755

Publication Date

September 2015

Volume

24

Issue

9

Start / End Page

1366 / 1372

Location

United States

Related Subject Headings

  • Young Adult
  • Urinary Bladder Neoplasms
  • Risk Factors
  • Prostatic Neoplasms
  • Pedigree
  • Mutation Rate
  • Mutation
  • Middle Aged
  • Male
  • Leukemia