ArticlePloS one2013
Population-based estimate of prostate cancer risk for carriers of the HOXB13 missense mutation G84E.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Homeobox B13 G84E Mutation and Prostate Cancer Risk.European urology · 2019Pooled it
- Precision Care for Hereditary Urologic Cancers: Genetic Testing, Counseling, Surveillance, and Therapeutic Implications.Current oncology (Toronto, Ont.) · 2025Review
- Heritable methylation marks associated with prostate cancer risk.Familial cancer · 2023Article
- Recent Insights on Genetic Testing in Primary Prostate Cancer.Molecular diagnosis & therapy · 2021Review
- Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer.Cancers · 2021Article
- Clinical implications of genomic evaluations for prostate cancer risk stratification, screening, and treatment: a narrative review.Prostate international · 2020Review
- Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis.Journal of oncology · 2020Review
- Impact of the G84E variant on HOXB13 gene and protein expression in formalin-fixed, paraffin-embedded prostate tumours.Scientific reports · 2017Article
- Inherited Mutations in Men Undergoing Multigene Panel Testing for Prostate Cancer: Emerging Implications for Personalized Prostate Cancer Genetic Evaluation.JCO precision oncology · 2017Article
- Article
- Computational Modeling of complete HOXB13 protein for predicting the functional effect of SNPs and the associated role in hereditary prostate cancer.Scientific reports · 2017Article
- Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2017Article
- Familial prostate cancer.Seminars in oncology · 2016Article
- Oncogenic mechanisms ofOncoscience · 2016Article
- The HOXB13 G84E Mutation Is Associated with an Increased Risk for Prostate Cancer and Other Malignancies.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2015Article
- Imputation of the rare HOXB13 G84E mutation and cancer risk in a large population-based cohort.PLoS genetics · 2015Article
- Article
- HOXB13 G84E-related familial prostate cancers: a clinical, histologic, and molecular survey.The American journal of surgical pathology · 2014Article
- Prevalence of the HOXB13 G84E prostate cancer risk allele in men treated with radical prostatectomy.BJU international · 2014Article
- Dysregulation of the homeobox transcription factor gene HOXB13: role in prostate cancer.Pharmacogenomics and personalized medicine · 2014Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The HOXB13 missense mutation G84E (rs138213197) is associated with increased risk of prostate cancer, but the current estimate of increased risk has a wide confidence interval (width of 95% confidence interval (CI) >200-fold) so the point estimate of 20-fold increased risk could be misleading. Population-based family studies can be more informative for estimating risks for rare variants, therefore, we screened for mutations in an Australian population-based series of early-onset prostate cancer cases (probands). We found that 19 of 1,384 (1.4%) probands carried the missense mutation, and of these, six (32%) had a family history of prostate cancer. We tested the 22 relatives of carriers diagnosed from 1998 to 2008 for whom we had a DNA sample, and found seven more carriers and one obligate carrier. The age-specific incidence for carriers was estimated to be, on average, 16.4 (95% CI 2.5-107.2) times that for the population over the time frame when the relatives were at risk prior to baseline. We then estimated the age and birth year- specific cumulative risk of prostate cancer (penetrance) for carriers. For example, the penetrance for an unaffected male carrier born in 1950 was 19% (95% CI 5-46%) at age 60 years, 44% (95% CI 18-74%) at age 70 years and 60% (95% CI 30-85%) at age 80 years. Our study has provided a population-based estimate of the average risk of prostate cancer for HOXB13 missense mutation G84E carriers that can be used to guide clinical practice and research. This study has also shown that the majority of hereditary prostate cancers due to the HOXB13 missense mutation are 'sporadic' in the sense that unselected cases with the missense mutation do not typically report having a family history of prostate cancer.
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