Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357086
rs80357086
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE <b>Conclusions:</b> A high proportion of Japanese HBOC patients showed the <i>BRCA1</i> L63X mutation, and the clinical characteristics of breast cancer in patients with this mutation might differ from those in patients with other <i>BRCA1</i> or <i>BRCA2</i> mutations, in terms of the subtype and nuclear grade of the resultant cancer. 31143373

2019

dbSNP: rs4149056
rs4149056
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.040 GeneticVariation BEFREE <b>Patients & methods:</b> Postmenopausal women with hormone-receptor positive breast cancer were genotyped for <i>SLCO1B1*5</i> (rs4149056) and rs10841753. 31190621

2019

dbSNP: rs10841753
rs10841753
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE <b>Patients & methods:</b> Postmenopausal women with hormone-receptor positive breast cancer were genotyped for <i>SLCO1B1*5</i> (rs4149056) and rs10841753. 31190621

2019

dbSNP: rs13047478
rs13047478
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE <i>C21orf58</i> and <i>ZNF526</i> possessed functional roles in the control of breast cancer cell growth, and the two coding variants were found to be the eQTL for several nearby genes. rs13047478 was significantly (<i>P</i> < 5.00 × 10<sup>-8</sup>) associated with the expression of genes <i>MCM3AP</i> and <i>YBEY</i> in breast mammary tissues. rs3810151 was found to be significantly associated with the expression of genes <i>PAFAH1B3</i> (<i>P</i> = 8.39 × 10<sup>-8</sup>) and <i>CNFN</i> (<i>P</i> = 3.77 × 10<sup>-4</sup>) in human blood samples. 29572226

2018

dbSNP: rs3810151
rs3810151
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE <i>C21orf58</i> and <i>ZNF526</i> possessed functional roles in the control of breast cancer cell growth, and the two coding variants were found to be the eQTL for several nearby genes. rs13047478 was significantly (<i>P</i> < 5.00 × 10<sup>-8</sup>) associated with the expression of genes <i>MCM3AP</i> and <i>YBEY</i> in breast mammary tissues. rs3810151 was found to be significantly associated with the expression of genes <i>PAFAH1B3</i> (<i>P</i> = 8.39 × 10<sup>-8</sup>) and <i>CNFN</i> (<i>P</i> = 3.77 × 10<sup>-4</sup>) in human blood samples. 29572226

2018

dbSNP: rs2228611
rs2228611
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 GeneticVariation BEFREE <i>DNMT1</i> rs2228611 may represent a determinant of radiation-induced fibrosis in breast cancer patients with promise for clinical usefulness in genetic-based predictive models. 27554481

2017

dbSNP: rs12670401
rs12670401
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE <i>EZH2</i> rs12670401, <i>EZH2</i> rs6464926, age of menarche, and menopausal status were associated with breast cancer susceptibility. 29089464

2018

dbSNP: rs6464926
rs6464926
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE <i>EZH2</i> rs12670401, <i>EZH2</i> rs6464926, age of menarche, and menopausal status were associated with breast cancer susceptibility. 29089464

2018

dbSNP: rs767151455
rs767151455
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE <i>XRCC1</i> rs1799782 (C194T) polymorphism correlated with tumor metastasis and molecular subtypes in breast cancer. 30568466

2018

dbSNP: rs2273535
rs2273535
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE (ii) Haplotype analyses, based on different combinations of multiple SNPs in Aurora-A, revealed a strong association with breast cancer risk; interestingly, the genotypic distribution of the suggested functional Phe31Ile SNP was not significantly different between breast cancer patients and controls, but the specific haplotype containing the putative at-risk Ile allele was more common in patients. 15688402

2005

dbSNP: rs13281615
rs13281615
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.800 GeneticVariation BEFREE 2008, this is the second study to confirm the association of 8q24.21-rs13281615 with breast cancer outcomes. 23717390

2013

dbSNP: rs1042522
rs1042522
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs878854066
rs878854066
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs1131691014
rs1131691014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs886039484
rs886039484
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs1057520001
rs1057520001
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE 550 samples (275 cases/275 control) of peripheral blood obtained from women (aged 22-87 years) with breast cancer and from healthy women (aged 23-87 years) were genotyped for frequencies of the following gene variances: R72P/rs1042522 (gene TP53) and S31R/ss4388499 (gene p21). 20127253

2010

dbSNP: rs10510102
rs10510102
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 GeneticVariation BEFREE 9 of the remaining 37 were associated with breast cancer risk in young women with a p-value <0.05: rs10510102, rs1219648, rs13387042, rs1876206, rs2936870, rs2981579, rs3734805, rs3803662 and rs4973768. 31125336

2019

dbSNP: rs4973768
rs4973768
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.800 GeneticVariation BEFREE 9 of the remaining 37 were associated with breast cancer risk in young women with a p-value <0.05: rs10510102, rs1219648, rs13387042, rs1876206, rs2936870, rs2981579, rs3734805, rs3803662 and rs4973768. 31125336

2019

dbSNP: rs2273535
rs2273535
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE Breast cancer risk associated with AURKA 91T -->A polymorphism in relation to BRCA mutations. 17113223

2007

dbSNP: rs369982706
rs369982706
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE Breast cancer risk associated with AURKA 91T -->A polymorphism in relation to BRCA mutations. 17113223

2007

dbSNP: rs372080166
rs372080166
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE Breast cancer-derived M543V mutation in helix 12 of estrogen receptor alpha inverts response to estrogen and SERMs. 19526339

2010

dbSNP: rs200595749
rs200595749
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 GeneticVariation BEFREE A mutation in FYVE-CENT (R1945Q) associated with br</span>east cancer abolished the interaction between FYVE-CENT and Beclin 1, and reduced the localization of these proteins at the intercellular bridge during cytokinesis. 21455500

2011

dbSNP: rs3736316
rs3736316
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE Breast cancer risk associated with duration of combined therapy was significantly modified by SRD5A1_rs3736316, showing a reduced risk elevation in carriers of the minor allele (p (interaction,empirical-Bayes) = 0.006 using the empirical-Bayes method, p (interaction,logistic regression) = 0.013 using logistic regression). 21947678

2012

dbSNP: rs36053993
rs36053993
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE Breast cancer cases had a 6.7% prevalence of G396D, yielding a significantly elevated risk estimate for breast cancer (odds ratio, 1.86; 95% confidence interval, 1.02-3.39; P = .039). 21952991

2012

dbSNP: rs2228480
rs2228480
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.050 GeneticVariation BEFREE Breast cancer risk was significantly associated with three SNPs located at 6q25.1-rs9383935 in CCDC170 and rs2228480 and rs3798758 in ESR1-with variant allele attributed odds ratios (ORs) of 1.38 (95% confidence interval (CI): 1.20 to 1.57, P=2.21×10(-6)), 0.84 (95% CI: 0.72 to 0.98, P=0.025) and 1.19 (95% CI: 1.04 to 1.37, P=0.013), respectively. 25116933

2014