Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786202601
rs786202601
CHEK2
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.010 GeneticVariation BEFREE In this study, we have identified two novel somatic CHEK2 mutations, c.349A > G (p.R117G) and c.967A > C (p.E321K), in prostate tumor specimens and investigated the functions of these mutants in vivo. 16835864

2006
dbSNP: rs976306779
rs976306779
AR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.010 GeneticVariation BEFREE In our study, we evaluated the functional significance of S100P expression on prostate tumor growth in vitro and in vivo. 18452169

2008
dbSNP: rs137852578
rs137852578
AR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.020 GeneticVariation BEFREE The gene expression profile of AR-E231G prostate tissue from 12-week-old mice was compared to an equivalent profile from mice expressing the AR-T857A receptor variant (analogous to the AR-T877A variant in LNCaP cells), which do not develop prostate tumors. 22275114

2012
dbSNP: rs137852578
rs137852578
AR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.020 GeneticVariation BEFREE Human LNCaP cells, extensively used as a model for androgen-dependent prostate tumor, express the androgen receptor (AR) mutant T877A promiscuously transactivated by estrogens and other ligands, which may further facilitate cancer progression. 12391264

2002
dbSNP: rs486907
rs486907
RNASEL
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.020 GeneticVariation BEFREE A novel gammaretrovirus named xenotropic murine leukemia virus-related virus (XMRV) has been recently identified and found to have a prevalence of 40% in prostate tumor samples from American patients carrying a homozygous R462Q mutation in the RNaseL gene. 19835577

2009
dbSNP: rs486907
rs486907
RNASEL
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.020 GeneticVariation BEFREE Identification of a novel Gammaretrovirus in prostate tumors of patients homozygous for R462Q RNASEL variant. 16609730

2006
dbSNP: rs138213197
rs138213197
HOXB13
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.030 GeneticVariation BEFREE Impact of the G84E variant on HOXB13 gene and protein expression in formalin-fixed, paraffin-embedded prostate tumours. 29259341

2017
dbSNP: rs138213197
rs138213197
HOXB13
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.030 GeneticVariation BEFREE Somatic molecular subtyping of prostate tumors from HOXB13 G84E carriers. 28186998

2017
dbSNP: rs138213197
rs138213197
HOXB13
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.030 GeneticVariation BEFREE PSA testing, six-core biopsy, genetic counselling and mutation analysis for French Canadian founder mutations in the BRCA1 and BRCA2 genes, histopathological review of tumour tissue from family members, examination of loss of heterozygosity at the BRCA2 gene locus, immunohistochemistry to determine the expression of the ERG nuclear oncoprotein in prostate tumours, genotyping with eight selected risk-associated single nucleotide polymorphisms, Doppler ultrasonography of the leg, CT of the abdomen and pelvis with intravenous and oral contrast, chest CT with intravenous contrast for the assessment of metastatic prostate cancer, genetic testing for the G84E variant in the HOXB13 gene. 23318356

2013
dbSNP: rs121913430
rs121913430
EGFR
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014