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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE These results confirm the association of a rare HOXB13 mutation with PC in the general population and suggest that this variant may be associated with features of more aggressive disease. 23129385 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE Positive variants in HOXB13, a gene associated only with prostate cancer risk, were identified in 30 patients (4.5%). 30730552 2019
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 To confirm this association in a screening setting, we conducted a case-control study and sequenced germline DNA from peripheral leukocytes of 1843 men diagnosed with prostate cancer (case subjects) and 2225 men without prostate cancer (control subjects) for mutations in HOXB13. 22781434 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE This study has also shown that the majority of hereditary prostate cancers due to the HOXB13 missense mutation are 'sporadic' in the sense that unselected cases with the missense mutation do not typically report having a family history of prostate cancer. 23457453 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE Association between germline homeobox B13 (HOXB13) G84E allele and prostate cancer susceptibility: a meta-analysis and trial sequential analysis. 27626483 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE The HOXB13 p.G84E mutation has been firmly established as a prostate cancer susceptibility allele. 27424772 2016
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 UNIPROT Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk. 27424772 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease UNIPROT Germline mutations in HOXB13 and prostate-cancer risk. 22236224 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE This study confirms the overall importance of the HOXB13 G84E mutation in prostate cancer susceptibility. 23292082 2013
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 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 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease UNIPROT To examine this finding in a large international sample of prostate cancer families, we genotyped this mutation and 14 other SNPs in or flanking HOXB13 in 2,443 prostate cancer families recruited by the International Consortium for Prostate Cancer Genetics (ICPCG). 23064873 2013
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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE Prevalence of HOXB13 mutation in a population of Ashkenazi Jewish men treated for prostate cancer. 23475555 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease 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
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE Our study confirmed the association between the G84E mutation of HOXB13 and risk of prostate cancer among subjects of European descent. 22714738 2012
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.600 GeneticVariation disease BEFREE This study examined 751 cases, 450 relatives and 355 controls to determine the contribution of this variant to PCa risk in Tasmania and investigated HOXB13 gene and protein expression in tumours from nine G84E heterozygote variant and 13 wild-type carriers. 29259341 2017
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 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: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
0.600 GeneticVariation disease BEFREE The novel HOXB13 G84E variant is associated with a significantly increased risk of hereditary prostate cancer. 22236224 2012
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
0.600 GeneticVariation disease BEFREE The HOXB13 mutation substantially increases risk of early onset, familial prostate cancer in European-American men. 23396964 2013
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
0.600 GeneticVariation disease BEFREE In prostate adenocarcinoma, besides mutations in BRCA1 and BRCA2 genes that are known to increase the incidence of high-risk cancer in young patients, new studies have shown mutation in other gene such as HOXB13 and also polymorphisms in MYC, MSMB, KLK2 and KLK3 that can be related to hereditary prostate cancer. 27819754 2017