rs138213197, HOXB13

N. diseases: 24
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
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
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
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 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
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
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
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
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
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
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
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
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
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.800 GeneticVariation BEFREE In summary, HOXB13 G84E variant-related prostate cancers show frequent pseudohyperplastic-type features and markedly low prevalence of ERG cancers relative to unselected cases and, especially, to early-onset cohorts. 24722062 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
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
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 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
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.800 GeneticVariation BEFREE These findings demonstrate that the HOXB13 G84E mutation is present in ~5 % of prostate cancer families, predominantly of European descent, and confirm its association with prostate cancer risk. 23064873 2013
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.800 GeneticVariation BEFREE 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. 23457453 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
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.800 GeneticVariation BEFREE The G84E mutation predisposes to prostate cancer in Poland, but accounts for only a small proportion of cases. 23334858 2013
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
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
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
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
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
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.800 GeneticVariation BEFREE This study confirms the overall importance of the HOXB13 G84E mutation in prostate cancer susceptibility. 23292082 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