Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894097
rs104894097
G 0.700 CausalMutation CLINVAR

dbSNP: rs3731239
rs3731239
0.020 GeneticVariation BEFREE ASSET analyses identified four SNPs significantly associated with multiple cancers: rs3731239 (CDKN2A intronic) with ESCC, GC and BC (P = 3.96 × 10(-) (4)); rs10811474 (3' of IFNW1) with RCC and BrC (P = 0.001); rs12683422 (LINGO2 intronic) with RCC and BC (P = 5.93 × 10(-) (4)) and rs10511729 (3' of ELAVL2) with LC and BrC (P = 8.63 × 10(-) (4)). 25239644

2014

dbSNP: rs3731249
rs3731249
0.020 GeneticVariation BEFREE Two patients harbored the A148T polymorphism, one of them with family history of breast cancer. 19571771

2009

dbSNP: rs3731239
rs3731239
0.020 GeneticVariation BEFREE This approach found evidence for breast cancer-associated SNPs in four of the cell cycle genes: the cyclin CCNE1 rs997669 had an odds ratio (OR) (GG/AA) of 1.18 [95% confidence interval (95% CI) 1.04-1.34] P = 0.003 and the cyclin-dependent kinase inhibitors-CDKN1A rs3176336: OR (TT/AA) = 1.25 (95% CI 1.11-1.42) P = 0.0026; CDKN1B rs34330: OR (TT/CC) = 1.22 (95% CI 1.02-1.47) P = 0.013 and the region of CDKN2A/2B rs3731239: OR (CC/TT) = 0.90 (95% CI 0.79-1.03) P = 0.013 and rs3218005 OR (GG/AA) = 1.55 (95% CI 1.02-2.37) P = 0.013 (P-values unadjusted for multiple testing). 18174243

2008

dbSNP: rs3731249
rs3731249
0.020 GeneticVariation BEFREE The CDKN2A A148T variant seems to contribute to early-onset breast cancer in Poland. 17061045

2007

dbSNP: rs1453633223
rs1453633223
0.010 GeneticVariation BEFREE Breast cancer-derived T58A MYC mutations are unable to activate Bim due to their failure to regulate p14/p21. 30655867

2019

dbSNP: rs200863613
rs200863613
0.010 GeneticVariation BEFREE In this report we identified differential regulation of the annexin/S100A family, through unique peptide recognition at the N-terminal regions, demonstrating p14ARF-p53 is a central orchestrator of the annexin/S100A family of calcium regulators in favor of pro-survival functions in the breast cancer cell. 28068434

2017

dbSNP: rs878853646
rs878853646
0.010 GeneticVariation BEFREE The fourth patient had a melanoma diagnosed at 54 years, a breast cancer at 46, and a strong family history of breast cancer (mother and grandmother), and presented the A85T mutation. 19571771

2009