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http://purl.uniprot.org/citations/23396964http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/23396964http://www.w3.org/2000/01/rdf-schema#comment"

Background

Recent work detected for the first time a high-risk prostate cancer mutation, in homeobox B13 (HOXB13) among European-Americans.

Methods

We further evaluated this G84E missense mutation (rs138213197) in two genetic association studies of prostate cancer: a family-based study of brothers and a case-control study of more aggressive disease (N = 2,665 total). We then calculated overall impact of this mutation by pooling all published studies of European-Americans.

Results

In our studies, the mutation was found exclusively among men with prostate cancer (carrier frequency = 1.48%) or unaffected brothers of cases carrying the mutation (frequency = 0.34%), and carrying the mutation gave an OR for disease = 4.79 (P = 0.01). The G84E mutation was more common among men with an earlier age of onset (≤55 years) or a family history of prostate cancer. We also observed for the first time an African-American case carrying the G84E mutation, although at HOXB13 both of his chromosomes were of European-American ancestry. The pooled analysis also indicated that carrying the G84E mutation results in an almost five-fold increase in risk of prostate cancer (P = 3.5 × 10(-17)), and this risk is even higher among cases with an early age of prostate cancer onset (≤55 years) or a family history of disease: a test of heterogeneity across these strata gives P < 1 × 10(-5).

Conclusions

The HOXB13 mutation substantially increases risk of early onset, familial prostate cancer in European-American men.

Impact

Testing for the G84E mutation in men with a positive family history may help distinguish those who merit more regular screening for prostate cancer."xsd:string
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http://purl.uniprot.org/citations/23396964http://purl.uniprot.org/core/author"Liu J."xsd:string
http://purl.uniprot.org/citations/23396964http://purl.uniprot.org/core/author"Klein E.A."xsd:string
http://purl.uniprot.org/citations/23396964http://purl.uniprot.org/core/author"Casey G."xsd:string
http://purl.uniprot.org/citations/23396964http://purl.uniprot.org/core/author"Plummer S.J."xsd:string
http://purl.uniprot.org/citations/23396964http://purl.uniprot.org/core/author"Rybicki B.A."xsd:string
http://purl.uniprot.org/citations/23396964http://purl.uniprot.org/core/author"Witte J.S."xsd:string
http://purl.uniprot.org/citations/23396964http://purl.uniprot.org/core/author"Cheng I."xsd:string
http://purl.uniprot.org/citations/23396964http://purl.uniprot.org/core/author"Mefford J."xsd:string
http://purl.uniprot.org/citations/23396964http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/23396964http://purl.uniprot.org/core/name"Cancer Epidemiol Biomarkers Prev"xsd:string
http://purl.uniprot.org/citations/23396964http://purl.uniprot.org/core/pages"675-680"xsd:string
http://purl.uniprot.org/citations/23396964http://purl.uniprot.org/core/title"HOXB13 mutation and prostate cancer: studies of siblings and aggressive disease."xsd:string
http://purl.uniprot.org/citations/23396964http://purl.uniprot.org/core/volume"22"xsd:string
http://purl.uniprot.org/citations/23396964http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/23396964
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