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 |
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 |
rs203462
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicate for the first time the importance of AKAP10 Ile646Val for familial breast cancer susceptibility.
|
16956908 |
2007 |
rs796096871
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicate for the first time the importance of AKAP10 Ile646Val for familial breast cancer susceptibility.
|
16956908 |
2007 |
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 |
rs34434221
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our previous study has shown that AKAP13 Lys526Gln is associated with familial breast cancer (OR=1.58).
|
16956908 |
2007 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs756522395
|
|
|
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 |
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 |