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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 |
|
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 |
|
rs1064795860
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified six patients (25%) with BRCA1 mutation of which three were found to be of novel type one in exon 16 (4956insG) and two in exon 7 (Lys110Thr) (Ser114Pro) out of 24 familial breast cancer patients studied from two different geographic regions/populations of India.
|
15564800 |
2004 |
|
rs397509062
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified six patients (25%) with BRCA1 mutation of which three were found to be of novel type one in exon 16 (4956insG) and two in exon 7 (Lys110Thr) (Ser114Pro) out of 24 familial breast cancer patients studied from two different geographic regions/populations of India.
|
15564800 |
2004 |
|
rs895819
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We hypothesize that the G-variant of rs895819 might impair the maturation of the oncogenic miR-27a and thus, is associated with familial breast cancer risk.
|
19921425 |
2010 |
|
rs140510218
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found two sequence variants, 240G-->A in the 5' untranslated region and 1455C-->T (S388S) in exon 4, in five familial breast cancer cases.
|
15084242 |
2004 |
|
rs80358505
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found two sequence variants, 240G-->A in the 5' untranslated region and 1455C-->T (S388S) in exon 4, in five familial breast cancer cases.
|
15084242 |
2004 |
|
rs996659898
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found two sequence variants, 240G-->A in the 5' untranslated region and 1455C-->T (S388S) in exon 4, in five familial breast cancer cases.
|
15084242 |
2004 |
|
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 |
|
rs28359178
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk.
|
25925750 |
2015 |
|
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 |
|
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 |
|
rs143282828
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Three novel p.Ala342Thr, p.Met353Thr and p.Tyr575Asp rare missense variants and a novel haplotype composed of two variants in the CpG island (c.-24149G > T and c.-24001A > G) and a variant in the 5'UTR (c.-8A > G) and a variant in the 3'UTR (c.*27A > C) were detected in 26 of 571 (4.6%) individuals with familial breast cancer, compared to 14 of 725 (1.9%) controls (P = 0.01; OR = 2.4, 95% CI = 1.2-5.1).
|
18306035 |
2009 |
|
rs28363284
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This suggests a role for E233G as a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2.
|
15170666 |
2004 |
|
rs1302297709
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This suggests a role for E233G as a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2.
|
15170666 |
2004 |
|
rs747364414
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This suggests a role for E233G as a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2.
|
15170666 |
2004 |
|
rs1042028
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This case control study investigated whether polymorphisms of estrogen metabolizing genes CYP1A1 MspI, CYP17 MspAI, COMT Val(158) Met, and SULT1A1 Arg(213) His have any role in familial breast cancer susceptibility risk.
|
19863350 |
2010 |
|
rs9282861
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This case control study investigated whether polymorphisms of estrogen metabolizing genes CYP1A1 MspI, CYP17 MspAI, COMT Val(158) Met, and SULT1A1 Arg(213) His have any role in familial breast cancer susceptibility risk.
|
19863350 |
2010 |
|
rs4680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This case control study investigated whether polymorphisms of estrogen metabolizing genes CYP1A1 MspI, CYP17 MspAI, COMT Val(158) Met, and SULT1A1 Arg(213) His have any role in familial breast cancer susceptibility risk.
|
19863350 |
2010 |
|
rs767915085
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This case control study investigated whether polymorphisms of estrogen metabolizing genes CYP1A1 MspI, CYP17 MspAI, COMT Val(158) Met, and SULT1A1 Arg(213) His have any role in familial breast cancer susceptibility risk.
|
19863350 |
2010 |
|
rs113211432
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that the contribution of the BARD1 germline variants to breast cancer predisposition is very limited, and that neither Cys557Ser nor Val507Met have an effect on familial breast cancer susceptibility.
|
16333312 |
2006 |
|
rs2070094
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that the contribution of the BARD1 germline variants to breast cancer predisposition is very limited, and that neither Cys557Ser nor Val507Met have an effect on familial breast cancer susceptibility.
|
16333312 |
2006 |
|
rs386654966
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that the contribution of the BARD1 germline variants to breast cancer predisposition is very limited, and that neither Cys557Ser nor Val507Met have an effect on familial breast cancer susceptibility.
|
16333312 |
2006 |
|
rs80357125
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggest that the contribution of the BARD1 germline variants to breast cancer predisposition is very limited, and that neither Cys557Ser nor Val507Met have an effect on familial breast cancer susceptibility.
|
16333312 |
2006 |