Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11075884
rs11075884
0.010 GeneticVariation BEFREE Seven of the 19 markers were significant in a multivariate predictive model of familial breast cancer in AJ women, three novel SNPs [rs17663555(5q13.2), rs566164(6q21), and rs11075884(16q22.2)], the FGFR2 haplotype, and three previously published SNPs [rs13387042(2q35), rs2046210(ESR1), and rs3112612(TOX3)], yielding moderate predictive power with an area under the curve (AUC) of the ROC (receiver-operator characteristic curve) of 0.74. 23354978

2013

dbSNP: rs2046210
rs2046210
0.010 GeneticVariation BEFREE Seven of the 19 markers were significant in a multivariate predictive model of familial breast cancer in AJ women, three novel SNPs [rs17663555(5q13.2), rs566164(6q21), and rs11075884(16q22.2)], the FGFR2 haplotype, and three previously published SNPs [rs13387042(2q35), rs2046210(ESR1), and rs3112612(TOX3)], yielding moderate predictive power with an area under the curve (AUC) of the ROC (receiver-operator characteristic curve) of 0.74. 23354978

2013

dbSNP: rs203462
rs203462
0.010 GeneticVariation BEFREE Our results indicate for the first time the importance of AKAP10 Ile646Val for familial breast cancer susceptibility. 16956908

2007

dbSNP: rs796096871
rs796096871
0.010 GeneticVariation BEFREE Our results indicate for the first time the importance of AKAP10 Ile646Val for familial breast cancer susceptibility. 16956908

2007

dbSNP: rs34434221
rs34434221
0.020 GeneticVariation BEFREE Here, we analysed the potential impact of four polymorphic non-conservative amino acid exchanges (Arg494Trp, Lys526Gln, Asn1086Asp and Gly2461Ser) in AKAP13 on familial breast cancer. 16234258

2006

dbSNP: rs34434221
rs34434221
0.020 GeneticVariation BEFREE Our previous study has shown that AKAP13 Lys526Gln is associated with familial breast cancer (OR=1.58). 16956908

2007

dbSNP: rs2241268
rs2241268
0.010 GeneticVariation BEFREE Here, we analysed the potential impact of four polymorphic non-conservative amino acid exchanges (Arg494Trp, Lys526Gln, Asn1086Asp and Gly2461Ser) in AKAP13 on familial breast cancer. 16234258

2006

dbSNP: rs4843075
rs4843075
0.010 GeneticVariation BEFREE Here, we analysed the potential impact of four polymorphic non-conservative amino acid exchanges (Arg494Trp, Lys526Gln, Asn1086Asp and Gly2461Ser) in AKAP13 on familial breast cancer. 16234258

2006

dbSNP: rs6960867
rs6960867
0.010 GeneticVariation BEFREE To evaluate the impact of AKAP variants on breast cancer risk, we genotyped six nonsynonymous single-nucleotide polymorphisms that were predicted to be deleterious and found two (M463I, 1389G>T and N2792S, 8375A>G) to be associated with an allele dose-dependent increase in risk of familial breast cancer in a German population. 18334708

2008

dbSNP: rs6964587
rs6964587
0.010 GeneticVariation BEFREE To evaluate the impact of AKAP variants on breast cancer risk, we genotyped six nonsynonymous single-nucleotide polymorphisms that were predicted to be deleterious and found two (M463I, 1389G>T and N2792S, 8375A>G) to be associated with an allele dose-dependent increase in risk of familial breast cancer in a German population. 18334708

2008

dbSNP: rs758898660
rs758898660
0.010 GeneticVariation BEFREE Here, we analysed the potential impact of four polymorphic non-conservative amino acid exchanges (Arg494Trp, Lys526Gln, Asn1086Asp and Gly2461Ser) in AKAP13 on familial breast cancer. 16234258

2006

dbSNP: rs34301344
rs34301344
0.040 GeneticVariation BEFREE ARLTS1 is a tumor suppressor gene initially described as a low-penetrance cancer gene: a truncated Trp149Stop (MUT) polymorphism is associated with general familial cancer aggregation and, particularly, high-risk familial breast cancer. 17079447

2006

dbSNP: rs34301344
rs34301344
0.040 GeneticVariation BEFREE On the basis of the small number of 46 cases, we additionally showed an association between the Trp149Stop mutation and an increased risk of bilateral BC (OR=4.11, 95% CI=1.27-13.31, p=0.011). 16353159

2006

dbSNP: rs34301344
rs34301344
0.040 GeneticVariation BEFREE The Cys148Arg and Trp149Stop variants in the tumour suppressor gene ARLTS1 predispose to familial breast cancer, suggesting that these variants might also contribute to colorectal carcinogenesis. 16488076

2006

dbSNP: rs34301344
rs34301344
0.040 GeneticVariation BEFREE Both Cys148Arg and Trp149Stop were associated with an increased risk of familial or high-risk familial breast cancer, respectively. 16646072

2006

dbSNP: rs755100942
rs755100942
0.040 GeneticVariation BEFREE ARLTS1 is a tumor suppressor gene initially described as a low-penetrance cancer gene: a truncated Trp149Stop (MUT) polymorphism is associated with general familial cancer aggregation and, particularly, high-risk familial breast cancer. 17079447

2006

dbSNP: rs755100942
rs755100942
0.040 GeneticVariation BEFREE Both Cys148Arg and Trp149Stop were associated with an increased risk of familial or high-risk familial breast cancer, respectively. 16646072

2006

dbSNP: rs755100942
rs755100942
0.040 GeneticVariation BEFREE On the basis of the small number of 46 cases, we additionally showed an association between the Trp149Stop mutation and an increased risk of bilateral BC (OR=4.11, 95% CI=1.27-13.31, p=0.011). 16353159

2006

dbSNP: rs755100942
rs755100942
0.040 GeneticVariation BEFREE The Cys148Arg and Trp149Stop variants in the tumour suppressor gene ARLTS1 predispose to familial breast cancer, suggesting that these variants might also contribute to colorectal carcinogenesis. 16488076

2006

dbSNP: rs3803185
rs3803185
0.030 GeneticVariation BEFREE We studied the impact of the ARLTS1 Pro131Leu and Cys148Arg variants on high-risk familial and familial BC risk, investigating 482 familial BC cases (including 305 high-risk cases) and 530 control individuals. 16353159

2006

dbSNP: rs3803185
rs3803185
0.030 GeneticVariation BEFREE Both Cys148Arg and Trp149Stop were associated with an increased risk of familial or high-risk familial breast cancer, respectively. 16646072

2006

dbSNP: rs3803185
rs3803185
0.030 GeneticVariation BEFREE The Cys148Arg and Trp149Stop variants in the tumour suppressor gene ARLTS1 predispose to familial breast cancer, suggesting that these variants might also contribute to colorectal carcinogenesis. 16488076

2006

dbSNP: rs147120792
rs147120792
0.010 GeneticVariation BEFREE We studied the impact of the ARLTS1 Pro131Leu and Cys148Arg variants on high-risk familial and familial BC risk, investigating 482 familial BC cases (including 305 high-risk cases) and 530 control individuals. 16353159

2006

dbSNP: rs756522395
rs756522395
ATM
0.010 GeneticVariation BEFREE We found three novel allelic variants: IVS64 + 51delT and p.L752L, not showing association with hereditary breast cancer, and p.L694L found in one family in two breast cancer patients. 17351744

2008

dbSNP: rs28904921
rs28904921
0.010 GeneticVariation BEFREE We conclude that the ATM IVS10-6T-->G mutation does not confer a significantly elevated breast cancer risk and that ATM 7271T-->G is a rare event in familial breast cancer. 14871810

2004