ArticleThe New England journal of medicine2012
Germline mutations in HOXB13 and prostate-cancer risk.
Article in The New England journal of medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05681416 (Prostate Cancer Prevention Clinic for Men With Risk of Familial Prostate Cancer), which is not on this map. Cited by 379 papers, 6 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Prostate Cancer Prevention Clinic for Men With Risk of Familial Prostate Cancer
Who cites it
379 citing papers in PubMed, 6 syntheses or guidelines pooled it, 662 citations in OpenAlex.
- Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.Nature communications · 2025Pooled it
- Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia.Human molecular genetics · 2024Pooled it
- Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.Prostate cancer and prostatic diseases · 2023Pooled it
- Cholelithiasis increased prostate cancer risk: evidence from a case-control study and a meta-analysis.BMC urology · 2022Pooled it
- Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction.Nature genetics · 2021Pooled it
- Homeobox B13 G84E Mutation and Prostate Cancer Risk.European urology · 2019Pooled it
- 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
- A TBX2-HLX Regulatory Axis Is Associated with Advanced Prostate Cancer.Biomedicines · 2026Article
- Early-Onset Prostate Cancer: Epidemiology, Risk Factors, Biology, Clinical Features, Management, and Early Detection.MedComm · 2026Review
- Association analysis of germline variants in GEN1 with a susceptibility to prostate cancer in Polish men.Hereditary cancer in clinical practice · 2026Article
- Molecular determinants of AR-enhancer interaction and cistrome reprogramming in prostate cancer progression.Endocrine-related cancer · 2026Review
- Imbalance in WNT: retinoic acid signaling dysregulates HOX gene expression: implications for cancer stem cell heterogeneity and CRC patient survival.Stem cells translational medicine · 2026Article
- From prostate specific antigen to genomic signatures: Advances in biomarkers for prostate cancer diagnosis and prognosis.Translational oncology · 2026Review
- Genome-wide association meta-analyses over one million individuals identify 54 loci associated with urinary incontinence and its subtypes.medRxiv : the preprint server for health sciences · 2026Article
- Genomic landscape and precision therapy in prostate cancer: current status and future directions.NPJ precision oncology · 2026Review
- LSD1 promotes prostate cancer cell proliferation by upregulating PRAC1 expression.Scientific reports · 2026Article
- Scalable and accurate rare-variant association tests for whole genome sequencing time-to-event analysis in large biobanks.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Genetic Testing and Imaging in Men with Familial History or Genetic Predisposition of Prostate Cancer-Introducing the Prospective "ProFam-Risk" Study.European urology open science · 2026Article
- Revisiting the impact of BRCA1 pathogenic variants on the aggressiveness of prostate cancer.JNCI cancer spectrum · 2026Article
- The castration-resistant prostate cancer-associated SNP rs11067228 facilitates neuroendocrine differentiation through an enhancer-mediated chromatin interaction with SRRM4.International journal of biological sciences · 2026Article
319 more citing papers are in PubMed but not listed here.
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Authors and funding
25 authors at 7 institutions in 1 country.
Funding
Abstract
backgroundFamily 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.
methodsWe 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.
resultsProbands 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)).
conclusionsThe 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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.