Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs191257018
rs191257018
0.010 GeneticVariation BEFREE A novel amino acid change, F340S, was found in a patient with sporadic colon and breast cancer and leukemia but was not detected in 246 chromosomes from healthy anonymous blood donors. 10699937

2000

dbSNP: rs61753793
rs61753793
0.010 GeneticVariation BEFREE A novel amino acid change, F340S, was found in a patient with sporadic colon and breast cancer and leukemia but was not detected in 246 chromosomes from healthy anonymous blood donors. 10699937

2000

dbSNP: rs1695
rs1695
0.100 GeneticVariation BEFREE Association between survival after treatment for breast cancer and glutathione S-transferase P1 Ile105Val polymorphism. 11059750

2000

dbSNP: rs144848
rs144848
0.100 GeneticVariation BEFREE Here we show that a common human polymorphism (N372H) in exon 10 of BRCA2 confers an increased risk of breast cancer: the HH homozygotes have a 1.31-fold (95% CI, 1.07-1.61) greater risk than the NN group. 11062481

2000

dbSNP: rs4680
rs4680
0.100 GeneticVariation BEFREE A valine-108-methionine polymorphism in exon 4 of the catechol-O-methyltransferase (COMT) gene causes a 3- to 4-fold reduction in enzyme activity and has been associated with an increased risk of breast cancer. 11142424

2000

dbSNP: rs80358547
rs80358547
0.010 GeneticVariation BEFREE RNA analysis from a breast cancer patient with BRCA2 IVS7 + 2T --> G showed that the productive message was produced from only one chromosome. 11185744

2000

dbSNP: rs1799782
rs1799782
0.100 GeneticVariation BEFREE We examined the association of polymorphisms in XRCC1 (codon 194 Arg-->Trp and codon 399 Arg-->Gln) and breast cancer in the Carolina Breast Cancer Study, a population-based case-control study in North Carolina. 11303590

2001

dbSNP: rs25487
rs25487
0.100 GeneticVariation BEFREE We examined the association of polymorphisms in XRCC1 (codon 194 Arg-->Trp and codon 399 Arg-->Gln) and breast cancer in the Carolina Breast Cancer Study, a population-based case-control study in North Carolina. 11303590

2001

dbSNP: rs4680
rs4680
0.100 GeneticVariation BEFREE Relationship between the Val158Met polymorphism of catechol O-methyl transferase and breast cancer. 11434504

2001

dbSNP: rs4680
rs4680
0.100 GeneticVariation BEFREE Several studies have indicated that the val108met COMT polymorphism, which results in a 3-4-fold decrease in activity, is associated with increased breast cancer risk. 11577006

2001

dbSNP: rs1048943
rs1048943
0.080 GeneticVariation BEFREE The genotype distribution of Ile462Val in controls was also close to that expected under HWE with no significant differences between breast cancer cases and the controls (P = 0.44). 11698341

2001

dbSNP: rs1799814
rs1799814
0.030 GeneticVariation BEFREE We have carried out a population based case-control study of the Thr461Asn and Ile462Val polymorphisms in CYP1A1 to clarify their importance in determining breast cancer susceptibility. 11698341

2001

dbSNP: rs4680
rs4680
0.100 GeneticVariation BEFREE To date, three studies in Caucasians and one study in Chinese have been conducted to determine the association with breast cancer risk of a functional polymorphism (G-to-A, Val158Met) of this enzyme, but the results were inconsistent. 11706521

2001

dbSNP: rs1136201
rs1136201
0.100 GeneticVariation BEFREE In this analysis, we measured the association between the Ile(655)Val variant and postmenopausal breast cancer among women participating in the Hawaii and Los Angeles Multiethnic Cohort. 11731415

2001

dbSNP: rs28904921
rs28904921
0.080 GeneticVariation BEFREE Nevertheless, two recurrent ATM mutations, T7271G and IVS10-6T-->G, reportedly increase the risk of breast cancer. 11830610

2002

dbSNP: rs1799950
rs1799950
0.030 GeneticVariation BEFREE Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family. 11836613

2002

dbSNP: rs80357796
rs80357796
0.020 GeneticVariation BEFREE Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family. 11836613

2002

dbSNP: rs1800744
rs1800744
0.010 GeneticVariation BEFREE Q356R and S1512I are BRCA1 variants that may be associated with breast cancer in a Cypriot family. 11836613

2002

dbSNP: rs1136201
rs1136201
0.100 GeneticVariation BEFREE Recent studies indicated an association between the Ile to Val polymorphism at codon 655 of HER-2 and susceptibility to breast cancer. 11857355

2002

dbSNP: rs1136201
rs1136201
0.100 GeneticVariation BEFREE We have also evaluated a Val(655)Ile single nucleotide polymorphism, which is associated with an increased risk of breast cancer, in a subset of the colorectal cancer patients and in healthy control subjects. 11870539

2002

dbSNP: rs2236722
rs2236722
0.040 GeneticVariation BEFREE Aromatase and breast cancer: W39R, an inactive protein. 11916629

2002

dbSNP: rs144848
rs144848
0.100 GeneticVariation BEFREE The BRCA2 N372H polymorphism appears to be associated with a modest recessively inherited risk of breast cancer in Australian women. 11927503

2002

dbSNP: rs1042838
rs1042838
PGR
0.060 GeneticVariation BEFREE The progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of breast cancer in Australian women. 12010857

2002

dbSNP: rs1056836
rs1056836
0.100 GeneticVariation BEFREE We sought to determine whether two common functional polymorphisms in Cytochrome P450 1B1, V432L (m1), and A453S (m2) are related to breast cancer risk. 12010864

2002

dbSNP: rs3218536
rs3218536
0.090 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