Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1043994
rs1043994
NOTCH3
0.010 GeneticVariation BEFREE A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 100 usual ductal hyperplasia (UDH) controls were genotyped for the following Notch receptor single nucleotide polymorphisms (SNPs) using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry: Notch1, rs3124591; Notch2, rs11249433; Notch3, rs3815188, and rs1043994; and Notch4, rs367398, and rs520692. 25120811

2014
dbSNP: rs10941679
rs10941679 		0.010 GeneticVariation BEFREE For white Europeans, the per-allele OR associated with 5p12-rs10941679 was 1.11 (95% CI = 1.08-1.14, P = 7 × 10(-18)) for invasive breast cancer and 1.10 (95% CI = 1.01-1.21, P = 0.03) for DCIS. 21795498

2011
dbSNP: rs11249433
rs11249433
EMBP1
0.010 GeneticVariation BEFREE A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 100 usual ductal hyperplasia (UDH) controls were genotyped for the following Notch receptor single nucleotide polymorphisms (SNPs) using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry: Notch1, rs3124591; Notch2, rs11249433; Notch3, rs3815188, and rs1043994; and Notch4, rs367398, and rs520692. 25120811

2014
dbSNP: rs137852986
rs137852986
BRIP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs180177135
rs180177135
PALB2
G 0.700 CausalMutation CLINVAR

dbSNP: rs3124591
rs3124591
NOTCH1
0.010 GeneticVariation BEFREE Furthermore, given the inconsistent associations between the rs3124591</span> variant and Notch1 expression in IDC and DCIS, this variant may affect breast cancer risk through mechanisms in the latter stage other than alterations in Notch1 protein expression. 25120811

2014
dbSNP: rs367398
rs367398
NOTCH4
0.010 GeneticVariation BEFREE A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 100 usual ductal hyperplasia (UDH) controls were genotyped for the following Notch receptor single nucleotide polymorphisms (SNPs) using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry: Notch1, rs3124591; Notch2, rs11249433; Notch3, rs3815188, and rs1043994; and Notch4, rs367398, and rs520692. 25120811

2014
dbSNP: rs3815188
rs3815188
NOTCH3
0.010 GeneticVariation BEFREE A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 100 usual ductal hyperplasia (UDH) controls were genotyped for the following Notch receptor single nucleotide polymorphisms (SNPs) using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry: Notch1, rs3124591; Notch2, rs11249433; Notch3, rs3815188, and rs1043994; and Notch4, rs367398, and rs520692. 25120811

2014
dbSNP: rs520692
rs520692
NOTCH4
0.010 GeneticVariation BEFREE A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 100 usual ductal hyperplasia (UDH) controls were genotyped for the following Notch receptor single nucleotide polymorphisms (SNPs) using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry: Notch1, rs3124591; Notch2, rs11249433; Notch3, rs3815188, and rs1043994; and Notch4, rs367398, and rs520692. 25120811

2014
dbSNP: rs532480170
rs532480170
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR

dbSNP: rs75915166
rs75915166 		0.010 GeneticVariation BEFREE Analysis of DCIS by grade suggested that two independent SNPs at 11q13.3 near CCND1 were specific to low/intermediate grade DCIS (rs75915166, rs554219). 26884359

2016
dbSNP: rs80358829
rs80358829
BRCA2
0.010 GeneticVariation BEFREE The BRCA2 C5972T allele is a common variant in Poland that increases the risk of DCIS with micro-invasion. 16280055

2005
dbSNP: rs80359180
rs80359180
BRCA2
T 0.700 CausalMutation CLINVAR