Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10941679
rs10941679 		0.010 GeneticVariation BEFREE Expression quantitative trait locus analysis in normal breast tissues and breast tumors showed that the g (risk) allele of rs10941679 was associated with increased expression of FGF10 and MRPS30. 27640304

2016
dbSNP: rs7716600
rs7716600 		0.010 GeneticVariation BEFREE Further, we showed the rs7716600 risk genotype was associated with decreased MRPS30 promoter methylation exclusively in ER-positive breast tumors. 24388359

2014
dbSNP: rs121434592
rs121434592
AKT1
0.010 GeneticVariation BEFREE Available paired tissue samples from breast tumors known to harbor mutations underwent massARRAY genotyping (n = 70) to identify PIK3CA and AKT1(E17K) mutations. 21617917

2011
dbSNP: rs113994087
rs113994087
ALK
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs113994087
rs113994087
ALK
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs730881360
rs730881360
ATM
0.010 GeneticVariation BEFREE The observation of BRCA2 -26 G/A 5'UTR polymorphism concomitant with the presence of methylation in the promoter region was novel and emerged as a strong candidate for susceptibility to sporadic breast tumors. 21092294

2010
dbSNP: rs1555114766
rs1555114766
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR

dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR

dbSNP: rs2273535
rs2273535
AURKA
0.010 GeneticVariation BEFREE A significant relationship between the rs2273535 polymorphism in the AURKA gene and breast tumor in Asian group was found in an allelic genetic model (OR: 1.124, 95% CI: 1.003-1.29, p=0.044, Pheterogeneity=0.034), a homozygote model (OR: 1.229, 95% CI: 1.038-1.455, p=0.016, Pheterogeneity=0.266) and a recessive genetic model (OR: 1.227, 95% CI: 1.001-1.504, p=0.049, Pheterogeneity=0.006). 25169513

2014
dbSNP: rs1553622530
rs1553622530
BARD1
T 0.700 CausalMutation CLINVAR

dbSNP: rs28997576
rs28997576
BARD1
0.010 GeneticVariation BEFREE Cys557Ser carriers, with or without the BRCA2 mutation, had an increased risk of subsequent primary breast tumors after the first breast cancer diagnosis compared to non-carriers. 16768547

2006
dbSNP: rs121913348
rs121913348
BRAF
A 0.700 GeneticVariation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913348
rs121913348
BRAF
A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913348
rs121913348
BRAF
A 0.700 GeneticVariation CLINVAR Mutation profiling identifies numerous rare drug targets and distinct mutation patterns in different clinical subtypes of breast cancers. 22538770

2012
dbSNP: rs1057517590
rs1057517590
BRCA1
C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs1057518636
rs1057518636
BRCA1
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1060505051
rs1060505051
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131692162
rs1131692162
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555581104
rs1555581104
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555582520
rs1555582520
BRCA1
G 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs1555599208
rs1555599208
BRCA1
C 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs1800747
rs1800747
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs273898674
rs273898674
BRCA1
A 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs28897672
rs28897672
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs28897696
rs28897696
BRCA1
T 0.700 CausalMutation CLINVAR