HOXB13, homeobox B13, 10481

N. diseases: 90; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
0.600 GeneticVariation disease BEFREE A recurrent mutation in HOXB13 has been shown to predispose to hereditary prostate cancer (HPC), and BRCA2 mutations to hereditary breast and ovarian cancer (HBOC). 27899188 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE For example, a recent study suggested that one cannot adequately impute the HOXB13 G84E mutation associated with prostate cancer risk (carrier frequency of 0.0034 in European ancestry participants in the 1000 Genomes Project). 25629170 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE The HOXB13 G84E Mutation Is Associated with an Increased Risk for Prostate Cancer and Other Malignancies. 26108461 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease UNIPROT For example, a recent study suggested that one cannot adequately impute the HOXB13 G84E mutation associated with prostate cancer risk (carrier frequency of 0.0034 in European ancestry participants in the 1000 Genomes Project). 25629170 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 Biomarker disease CTD_human The androgen receptor cistrome is extensively reprogrammed in human prostate tumorigenesis. 26457646 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease 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
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE We found that the polygenic PrCa risk score (PR score), calculated using the 71 known single-nucleotide polymorphisms (SNPs) associated with PrCa and the HOXB13 G84E variant act multiplicatively on PrCa risk. 25595936 2015
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
0.600 GeneticVariation disease BEFREE A rare recurrent missense variant in HOXB13 (rs138213197/rs138213197" genes_norm="10481">G84E) was recently reported to be associated with hereditary prostate cancer. 25595936 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 Biomarker disease CTD_human Human HOX gene disorders. 24239177 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE HOXB13 G84E-related familial prostate cancers: a clinical, histologic, and molecular survey. 24722062 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 Biomarker disease BEFREE HOXB13, RFX6 and prostate cancer risk. 24473320 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease 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 (rs138213197" genes_norm="10481">G84E, rs138213197), which has been identified recently as a moderate penetrance PrCa susceptibility allele. 24550738 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE HOXB13 G84E was observed in 1.3% of population controls and was strongly associated with prostate cancer risk (CAPS: odds ratio [OR]: 3.4; 95% confidence interval [CI], 2.2-5.4; Stockholm-1: OR: 3.5; 95% CI, 2.4-5.2). 22841674 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 Biomarker disease CTD_human Together, our results suggest that rs339331 affects prostate cancer risk by altering RFX6 expression through a functional interaction with the prostate cancer susceptibility gene HOXB13. 24390282 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease 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
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE G84E mutation in HOXB13 is firmly associated with prostate cancer risk: a meta-analysis. 24026887 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE Together, our results suggest that rs339331 affects prostate cancer risk by altering RFX6 expression through a functional interaction with the prostate cancer susceptibility gene HOXB13. 24390282 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease 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
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
0.600 GeneticVariation disease 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
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
0.600 GeneticVariation disease BEFREE A rare but recurrent missense mutation (rs138213197" genes_norm="10481">G84E, rs138213197) in the gene homeobox B13 (HOXB13) was recently reported to be associated with hereditary prostate cancer. 22841674 2014
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
0.600 GeneticVariation disease BEFREE Men with the HOXB13 G84E variant had a 4.51-fold higher relative risk of PCa compared with non-carriers (95 % CI 3.28-6.20). 24026887 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE The goal of this study is to test association between HOXB13 genetic variants and PCa risk in Chinese men. 22718278 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE The G84E mutation in the HOXB13 gene is associated with an increased risk of prostate cancer in Poland. 23334858 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE Pedigree analysis of cases and controls revealed that 7/21 HOXB13 mutation carriers had a family history of prostate cancer. 23541221 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE The G84E variant of HOXB13 was recently found to be associated with a significantly increased risk of prostate cancer in a case control study. 23036981 2013