Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909229
rs121909229
A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs1205454520
rs1205454520
0.030 GeneticVariation BEFREE Furthermore, enhancement of TLX activity, by either ectopic expression or ligand stimulation, could potently prevent doxorubicin-induced senescence in prostate cancer cells and also allow prostatic epithelial cells to escape oncogene-induced senescence induced either by activated oncogene H-Ras(G12V) or knockdown of tumour suppressor PTEN, via a mechanism of direct but differential transcriptional regulation of two senescence-associated genes, repression of CDKN1A and transactivation of SIRT1. 25557355

2015

dbSNP: rs1205454520
rs1205454520
0.030 GeneticVariation BEFREE KRAS mutations were detected in 4 (3%) of 117 tumors (3× G12D and 1 G12V mutation).One tumor had a PIK3CA E545K mutation. 23158210

2013

dbSNP: rs1205454520
rs1205454520
0.030 GeneticVariation BEFREE Each of three Ki-ras(G12V) transfectants responded to TGF-beta1 by an increase in proliferation and by decreasing the abundance of the Cdk inhibitor p21 and the tumor suppressor PTEN, whereas each of three wild-type Ki-ras transfectants remained unresponsive to TGF-beta1. 11029459

2001

dbSNP: rs1029342144
rs1029342144
0.020 GeneticVariation BEFREE There was no evidence of such an effect on survival within the TP53-mutated tumor group for TP53 R72P carriers but a suggestion of an effect for MDM2 SNP309 carriers (GG vs. TT-genotype HR 2.99, P = 0.06). 21667122

2011

dbSNP: rs1029342144
rs1029342144
0.020 GeneticVariation BEFREE Statistically significant associations were noted between SNPs in beta-catenin and APOE and a positive family history of cancer (beta-catenin: p=0.034, APOE: p=0.033); tumor location and a DCC SNP (p=0.038) and the P53 R72P mutation and survival (p=0.0336). 15523694

2005

dbSNP: rs765433422
rs765433422
0.010 GeneticVariation BEFREE KRAS c.34G>A mutation was detected in primary tumor and liver metastasis, which additionally revealed 2 rare PI3KCA mutations (c.1633G>C and c.1645G>C). 29409955

2018

dbSNP: rs1197734477
rs1197734477
0.010 GeneticVariation 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

dbSNP: rs121909237
rs121909237
0.010 GeneticVariation BEFREE Other mutations included: 1/78 (1.3%) successfully amplified tumor samples with TERT<sup> C228T</sup>; 2/79 (2.5%) NRAS 61 (c.181C>A and c.182A>G); 1/73 (1.4%) PIK3CA exon 9 (c.1589A>G and c.1598C>T in one tumor); 1/79 (1.3%) PIK3CA exon 20 (c.2951G>A); and 1/74 (1.4%) PTEN exon 5 (c.295G>A). 27824297

2017

dbSNP: rs398123316
rs398123316
0.010 GeneticVariation BEFREE Other mutations included: 1/78 (1.3%) successfully amplified tumor samples with TERT<sup> C228T</sup>; 2/79 (2.5%) NRAS 61 (c.181C>A and c.182A>G); 1/73 (1.4%) PIK3CA exon 9 (c.1589A>G and c.1598C>T in one tumor); 1/79 (1.3%) PIK3CA exon 20 (c.2951G>A); and 1/74 (1.4%) PTEN exon 5 (c.295G>A). 27824297

2017

dbSNP: rs121909222
rs121909222
0.010 GeneticVariation BEFREE Our results demonstrate that WAP-Cre:Pten(f/f):p53(lox.stop.lox_R270H) mice represent a tractable model to study basal-like breast cancer because unlike p53 deletion, p53(R270H) mutation in the mouse does not skew tumors toward the claudin-low subtype. 26781438

2016

dbSNP: rs121909224
rs121909224
0.010 GeneticVariation BEFREE We used whole exome sequencing to examine the mutation profiles of the LMD tumor DNA in CSF before therapeutic response and after disease relapse, and discovered a canonical cancer mutation PTEN (R130*) at both time points. 26961773

2016

dbSNP: rs121909231
rs121909231
0.010 GeneticVariation BEFREE Sequencing of the tumor showed homozygosity for c.1003C>T, confirming the presence of a germline mutation and implying loss of the second allele. 25756585

2015

dbSNP: rs1114167628
rs1114167628
0.010 GeneticVariation BEFREE These results further demonstrated the functional consequences of breast cancer-derived nherf1 mutations (K172N and D301V), and suggested the causal role of NHERF1 in tumor development and progression. 24012959

2013

dbSNP: rs868257011
rs868257011
0.010 GeneticVariation BEFREE These results further demonstrated the functional consequences of breast cancer-derived nherf1 mutations (K172N and D301V), and suggested the causal role of NHERF1 in tumor development and progression. 24012959

2013

dbSNP: rs886041332
rs886041332
0.010 GeneticVariation BEFREE Introducing the PDK1(K465E/K465E) PH domain knock-in mutation into cancer-prone PTEN(+/-) mice, lowered Akt activity only by about 50%, but led to a delay in tumour onset of ∼4 months in a broad range of tumours. 20959631

2011

dbSNP: rs121913294
rs121913294
0.010 GeneticVariation BEFREE Molecular analysis suggest that tumors from double myrAKT;p53(R172H) mice result from acceleration of initiated p53(R172H) tumors and not from bypass of AKT-induced oncogenic senescence. 20174572

2010

dbSNP: rs121909235
rs121909235
0.010 GeneticVariation BEFREE The mutation was identified in a patient with a glioma, and turned out to be a heterozygous germline mutation of PTEN (Arg234Gln), without loss of heterozygosity in tumour DNA. 12085208

2002

dbSNP: rs878853941
rs878853941
0.010 GeneticVariation BEFREE Mutation analysis of the entire coding region of PTEN including splice sites was performed in 33 tumors, revealing one tumor with somatic L182F (exon 6). 11021813

2000