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 UNIPROT
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.720 CausalMutation CLINVAR
Prostate Cancer, Hereditary, 9
CUI: C1970250
Disease: Prostate Cancer, Hereditary, 9
0.700 CausalMutation CLINVAR
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.700 CausalMutation CLINVAR
PROSTATE CANCER, SUSCEPTIBILITY TO
CUI: C3469524
Disease: PROSTATE CANCER, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
0.700 CausalMutation CLINVAR
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Hoxb-13: a new Hox gene in a distant region of the HOXB cluster maintains colinearity. 8756292 1996
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Hoxb13 up-regulates transglutaminase activity and drives terminal differentiation in an epidermal organotypic model. 15964834 2005
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Posterior Hox gene expression and differential androgen regulation in the developing and adult rat prostate lobes. 17138648 2007
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.800 GeneticVariation BEFREE The G84E mutation was more frequent among white case subjects than among white control subjects (10 of 1525 [0.7%] vs 2 of 1757 [0.1%], P = .01) and was associated with an increased risk of prostate cancer (unadjusted odds ratio = 5.8, 95% confidence interval = 1.3 to 26.5, P = .01). 22781434 2012
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE The germline mutation G84E of HOXB13 is a rare but recurrent mutation associated with elevated risk of prostate cancer in men of European descent, with an effect size that is greater than observed for previously validated risk variants of genome wide association studies. 22714738 2012
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.800 GeneticVariation BEFREE The G84E mutation was more frequent among white case subjects than among white control subjects (10 of 1525 [0.7%] vs 2 of 1757 [0.1%], P = .01) and was associated with an increased risk of prostate cancer (unadjusted odds ratio = 5.8, 95% confidence interval = 1.3 to 26.5, P = .01). 22781434 2012
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
0.800 GeneticVariation BEFREE The germline mutation G84E of HOXB13 is a rare but recurrent mutation associated with elevated risk of prostate cancer in men of European descent, with an effect size that is greater than observed for previously validated risk variants of genome wide association studies. 22714738 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.720 GeneticVariation BEFREE This study does not support the hypothesis that women who carry the HOXB13 Gly84Glu mutation are at increased risk of breast cancer. 23099437 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Association of a HOXB13 variant with breast cancer. 22853031 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Confirmation of the HOXB13 G84E germline mutation in familial prostate cancer. 22714738 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Germline mutations in HOXB13 and prostate-cancer risk. 22236224 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Association between germline HOXB13 G84E mutation and risk of prostate cancer. 22781434 2012
Prostate cancer, familial
CUI: C2931456
Disease: Prostate cancer, familial
0.060 GeneticVariation BEFREE The novel HOXB13 G84E variant is associated with a significantly increased risk of hereditary prostate cancer. 22236224 2012
Prostate cancer, familial
CUI: C2931456
Disease: Prostate cancer, familial
0.060 GeneticVariation BEFREE We evaluated the G84E germline mutation (rs138213197) of HOXB13 in a case-control study of familial prostate cancer at Vanderbilt University (Nashville, TN) to independently evaluate the association of the mutation with familial prostate cancer. 22714738 2012
Hereditary Prostate Carcinoma
CUI: C4722328
Disease: Hereditary Prostate Carcinoma
0.040 GeneticVariation BEFREE The novel HOXB13 G84E variant is associated with a significantly increased risk of hereditary prostate cancer. 22236224 2012
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.020 GeneticVariation BEFREE This study does not support the hypothesis that women who carry the HOXB13 Gly84Glu mutation are at increased risk of breast cancer. 23099437 2012
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