rs138213197, HOXB13

N. diseases: 24
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE The recurrent p.Gly84Glu germline mutation (G84E) in HOXB13 is consistently associated with prostate cancer (PCa), although the mechanisms underlying such linkage remain elusive. 30560549 2019
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE The absolute PCa risk by age 85 for a male HOXB13 G84E carrier varied from 60% for those with no PCa family history to 98% for those with two relatives diagnosed at young ages, compared with an average risk of 15% for noncarriers. 30527799 2019
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE While there was a trend toward an earlier age at diagnosis, overall the clinicopathologic features of PCa were not significantly different in G84E carriers and non-carriers. 29181843 2018
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE Interplay of <i>HOXB13</i> (G84E) and <i>CIP2A</i> (R229Q) variants results in highest observed inherited prostate cancer risk (OR, 21.1; <i>P</i> = 0.000024). 30181389 2018
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE We identified 101 heterozygous carriers of G84E who underwent radical prostatectomy for prostate cancer between 1985 and 2011 and matched these men by race, age and tumor grade to 99 HOXB13 wild-type controls. 28186998 2017
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE The HOXB13 G84E variant is associated with risk of prostate cancer (PCa), however the role this variant plays in P</span>Ca development is unknown. 29259341 2017
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE Our results indicated that significant increased PCa susceptibility was associated with rs138213197 compared with non-carriers (OR = 3.38, 95% CI: 2.45-4.66). 27626483 2016
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE The prostate cancer risk allele p.G84E was identified in 18 (0.56%) of 3,187 cases and 16 (0.70%) of 2,300 controls (OR = 0.81, 95% CI = 0.41-1.59, P = 0.54). 27424772 2016
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE The HOXB13 G84E mutation was identified in 0.49% of controls and in 2.51% of PCa cases. 26779768 2016
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE The age-specific risk of prostate cancer among G84E mutation carriers was higher than among non-carriers. 25629170 2015
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE 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. 26108461 2015
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE Then, 25 studies including 51,390 cases and 93,867 controls were included, and there was significant association between HOXB13 p.Gly84Glu mutation and overall cancer risk (OR = 2.872, 95% CI = 2.121-3.888, P < 0.001), particularly in prostate cancer (OR = 3.248, 95% CI = 2.313-4.560, P < 0.001), while no association was found in breast (OR = 1.424, 95% CI = 0.776-2.613, P = 0.253) and colorectal cancers (OR = 2.070, 95% CI = 0.485-8.841, P = 0.326). 26517352 2015
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE The clinical importance of HOXB13 G84E in PrCa management has not been established. 25595936 2015
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE While the HOXB13 G84E mutation may be rare, there may be a future role in genetic testing for this mutation after further studies of clinical utility in assessing prostate cancer risk. 24310616 2014
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE HOXB13 G84E is prevalent in >1% of the Swedish population and is associated with a 3.5-fold increased risk of prostate cancer. 22841674 2014
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE Recent genetic epidemiologic studies identified a germline mutation in the homeobox transcription factor, HOXB13 G84E, which is associated with markedly increased risk for prostate cancer, particularly early-onset hereditary prostate cancer. 24722062 2014
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE In the present study, carriers of the rare G84E variant in HOXB13 were both younger at the time of diagnosis and more likely to have a family history of prostate cancer compared with homozygotes for the wild-type allele. 24148311 2014
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE G84E mutation in HOXB13 is firmly associated with prostate cancer risk: a meta-analysis. 24026887 2014
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE Additional genotyping, conditional regression and haplotype analyses indicated that the newly identified common variants tag a rare, partially correlated coding variant in the HOXB13 gene (G84E, rs138213197), which has been identified recently as a moderate penetrance PrCa susceptibility allele. 24550738 2014
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE We performed a retrospective analysis of germline DNA samples from Ashkenazi Jewish men and a comparison group of non-Ashkenazi men treated for prostate cancer at our institution to determine the prevalence of HOXB13 G84E mutation in prostate cancer patients of Ashkenazi Jewish heritage, an ethnic group common to the New York City area. 23475555 2013
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE There was a stronger association between the G84E variant and PC among men with no first-degree relative with PC (OR, 4.04; 95% CI, 1.12-14.51) compared to men with a family history of PC (OR, 1.49; 95% CI, 0.30-7.50; P = 0.36 for interaction). 23129385 2013
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE Testing for the G84E mutation in men with a positive family history may help distinguish those who merit more regular screening for prostate cancer. 23396964 2013
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE A rare mutation G84E in HOXB13 was recently identified to be associated with prostate cancer (PCa) in Caucasians. 22718278 2013
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE In conclusion, the G84E mutation of HOXB13, a relatively recent mutation that likely occurred in Northern Europe, significantly increases risk for PCa. 23393222 2013