ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2012
Confirmation of the HOXB13 G84E germline mutation in familial prostate cancer.
Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 5 of them syntheses that pooled it.
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Who cites it
52 citing papers in PubMed, 5 syntheses or guidelines pooled it, 81 citations in OpenAlex.
- Homeobox B13 G84E Mutation and Prostate Cancer Risk.European urology · 2019Pooled it
- Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2018Guideline
- Association between germline homeobox B13 (HOXB13) G84E allele and prostate cancer susceptibility: a meta-analysis and trial sequential analysis.Oncotarget · 2016Pooled it
- Germline HOXB13 p.Gly84Glu mutation and cancer susceptibility: a pooled analysis of 25 epidemiological studies with 145,257 participates.Oncotarget · 2015Pooled it
- G84E mutation in HOXB13 is firmly associated with prostate cancer risk: a meta-analysis.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- The G84E mutation of HOXB13 is associated with increased risk for prostate cancer: results from the REDUCE trial.Carcinogenesis · 2013Trial
- HOXB13, a high-risk prostate cancer gene, also confers risk for breast cancer: novel variants of clinical significance, especially in hormone-positive patients.Journal of human genetics · 2026Article
- Early-Onset Prostate Cancer: Epidemiology, Risk Factors, Biology, Clinical Features, Management, and Early Detection.MedComm · 2026Review
- Toward the genetic landscape of prostate cancer in India: insights from whole-exome and low-pass whole-genome sequencing of formalin-fixed paraffin-embedded tumor tissues.Frontiers in systems biology · 2026Article
- Coding Variants of the Genitourinary Development GeneJCO precision oncology · 2025Article
- Therapeutic agents for Alzheimer's disease: a critical appraisal.Frontiers in aging neuroscience · 2024Review
- Genetic factors for differentiated thyroid cancer in French Polynesia: new candidate loci.Precision clinical medicine · 2023Article
- Rereading the genetic origin of cancer: the puzzle of all eras.Future science OA · 2022Article
- A comparative mRNA- and miRNA transcriptomics reveals novel molecular signatures associated with metastatic prostate cancers.Frontiers in genetics · 2022Article
- A generalized linear mixed model association tool for biobank-scale data.Nature genetics · 2021Article
- Prostate cancer risk variants of the HOXB genetic locus.Scientific reports · 2021Article
- Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.PloS one · 2021Article
- TheCancers · 2020Article
- Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.International journal of molecular sciences · 2020Review
- 8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer.Nature communications · 2020Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundA recent study of familial and early onset prostate cancer reported a recurrent rare germline mutation of HOXB13 among men of European descent. The gene resides within the 17q21 hereditary prostate cancer linkage interval.
methodsWe evaluated the G84E germline mutation (rs138213197) of HOXB13 in a case-control study of familial prostate cancer at Vanderbilt University (Nashville, TN) to independently evaluate the association of the mutation with familial prostate cancer. We genotyped 928 familial prostate cancer probands and 930 control probands without a personal or family history of prostate cancer.
resultsOur study confirmed the association between the G84E mutation of HOXB13 and risk of prostate cancer among subjects of European descent. We observed the mutation in 16 familial cases and in two controls, each as heterozygotes. The odds ratio (OR) for prostate cancer was 7.9 [95% confidence interval, (CI) 1.8-34.5, P = 0.0062] among carriers of the mutation. The carrier rate was 1.9% among all familial case probands and 2.7% among probands of pedigrees with ≥3 affected. In a separate case series of 268 probands of European descent with no additional family history of prostate cancer, the carrier rate was 1.5%.
conclusionsThe germline mutation G84E of HOXB13 is a rare but recurrent mutation associated with elevated risk of prostate cancer in men of European descent, with an effect size that is greater than observed for previously validated risk variants of genome wide association studies. IMPACT: This study independently confirms the association of a germline HOXB13 mutation with familial prostate cancer.
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