Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357138
rs80357138
0.010 GeneticVariation BEFREE Carriage of the rare allele of XRCC2 R1</span>88H was associated with breast cancer overall [odds ratio 1.3; 95% confidence interval (CI)=(1.0, 1.8)] and when younger-onset cases with a positive family history were compared with older controls with no family history [odds ratio 1.9; 95% CI=(1.0, 3.8)]. 12023985

2002

dbSNP: rs523349
rs523349
0.040 GeneticVariation BEFREE A49T, V89L and TA repeat polymorphisms of steroid 5alpha-reductase type II and breast cancer risk in Japanese women. 12100746

2002

dbSNP: rs9282858
rs9282858
0.020 GeneticVariation BEFREE A49T, V89L and TA repeat polymorphisms of steroid 5alpha-reductase type II and breast cancer risk in Japanese women. 12100746

2002

dbSNP: rs747504890
rs747504890
0.030 GeneticVariation BEFREE To gain insight into the molecular basis of human prolactin (hPRL) antagonist induced apoptosis, we compared the differential gene expression profile of four human breast cancer cell lines following treatment with hPRL and its antagonist (hPRL-G129R). 12140755

2002

dbSNP: rs1136201
rs1136201
0.100 GeneticVariation BEFREE A single-nucleotide polymorphism (SNP) at codon 655, resulting in a G-to-A transition (Ile655Val) in the transmembrane domain-coding region of this gene has been associated with an increased risk of breast cancer, particularly among younger women. 12166652

2002

dbSNP: rs1213469537
rs1213469537
0.060 GeneticVariation BEFREE Caveolin-1 mutations (P132L and null) and the pathogenesis of breast cancer: caveolin-1 (P132L) behaves in a dominant-negative manner and caveolin-1 (-/-) null mice show mammary epithelial cell hyperplasia. 12368209

2002

dbSNP: rs1801282
rs1801282
0.070 GeneticVariation BEFREE No significant association was observed between PPARgamma Pro12Ala polymorphism and either incident breast cancer (odds ratio = 1.08, 95% confidence interval = 0.85-1.38 for Ala allele carriers compared to non-carriers), plasma hormones, plasma cholesterol, BMI, weight gain since age 18 years or waist-to-hip ratio. 12439219

2002

dbSNP: rs1805192
rs1805192
0.050 GeneticVariation BEFREE No significant association was observed between PPARgamma Pro12Ala polymorphism and either incident breast cancer (odds ratio = 1.08, 95% confidence interval = 0.85-1.38 for Ala allele carriers compared to non-carriers), plasma hormones, plasma cholesterol, BMI, weight gain since age 18 years or waist-to-hip ratio. 12439219

2002

dbSNP: rs1136201
rs1136201
0.100 GeneticVariation BEFREE Furthermore, the opposing effects of the neu* activating oncogenic point mutation and the Val-655-->Ile single-nucleotide polymorphism shown to be linked to reduced risk of breast cancer are explained in terms of shifts in the equilibrium between the active and inactive states of erbB2 in vivo. 12461170

2002

dbSNP: rs144848
rs144848
0.100 GeneticVariation BEFREE The BRCA2 372 HH genotype defined by the BRCA2 N372H nonconservative amino acid substitution polymorphism was recently reported to be associated with a small increased risk of breast cancer. 12471628

2003

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE The low activity C677T (valine) genotype of MTHFR may increase the risk of early onset breast cancer. 12473175

2002

dbSNP: rs1800057
rs1800057
ATM
0.040 GeneticVariation BEFREE No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer. 12473176

2002

dbSNP: rs4986761
rs4986761
ATM
0.030 GeneticVariation BEFREE No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer. 12473176

2002

dbSNP: rs1052133
rs1052133
0.100 GeneticVariation BEFREE Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. 12496039

2002

dbSNP: rs144848
rs144848
0.100 GeneticVariation BEFREE Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. 12496039

2002

dbSNP: rs1799782
rs1799782
0.100 GeneticVariation BEFREE Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. 12496039

2002

dbSNP: rs746702110
rs746702110
0.030 GeneticVariation BEFREE Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. 12496039

2002

dbSNP: rs941759532
rs941759532
0.020 GeneticVariation BEFREE Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. 12496039

2002

dbSNP: rs747091571
rs747091571
0.010 GeneticVariation BEFREE Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. 12496039

2002

dbSNP: rs1036980234
rs1036980234
0.010 GeneticVariation BEFREE The patched polymorphism Pro1315Leu (C3944T) may modulate the association between use of oral contraceptives and breast cancer risk. 12516098

2003

dbSNP: rs357564
rs357564
0.010 GeneticVariation BEFREE The patched polymorphism Pro1315Leu (C3944T) may modulate the association between use of oral contraceptives and breast cancer risk. 12516098

2003

dbSNP: rs25487
rs25487
0.100 GeneticVariation BEFREE We used a case-control study design (162 cases and 302 controls) to test the association between three amino acid substitution variants of DNA repair genes (XRCC1 Arg194Trp, XRCC1 Arg399Gln, and XRCC3 Thr241Met) and breast cancer susceptibility. 12565173

2003

dbSNP: rs861539
rs861539
0.100 GeneticVariation BEFREE We used a case-control study design (162 cases and 302 controls) to test the association between three amino acid substitution variants of DNA repair genes (XRCC1 Arg194Trp, XRCC1 Arg399Gln, and XRCC3 Thr241Met) and breast cancer susceptibility. 12565173

2003

dbSNP: rs17879961
rs17879961
0.900 GeneticVariation BEFREE To evaluate the possible association of R117G and two germline variants reported elsewhere, R145W and I157T with breast cancer, we screened 737 BRCA1/2-negative familial breast cancer cases from 605 families, 459 BRCA1/2-positive cases from 335 families, and 723 controls from the United Kingdom, the Netherlands, and North America. 12610780

2003

dbSNP: rs1302103336
rs1302103336
0.070 GeneticVariation BEFREE To evaluate the possible association of R117G and two germline variants reported elsewhere, R145W and I157T with breast cancer, we screened 737 BRCA1/2-negative familial breast cancer cases from 605 families, 459 BRCA1/2-positive cases from 335 families, and 723 controls from the United Kingdom, the Netherlands, and North America. 12610780

2003