|
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 |
|
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 |
|
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 |
|
rs886039958
|
|
|
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 |
|
rs886039958
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our previous study has shown that AKAP13 Lys526Gln is associated with familial breast cancer (OR=1.58).
|
16956908 |
2007 |
|
rs878854066
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we investigated the possible role of the Ins16bp and Arg72Pro polymorphisms and their haplotypes as low-penetrance alleles in familial breast cancer.
|
18640791 |
2008 |
|
rs878854066
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The R72P P53 mutation is associated with familial breast cancer in Jewish women.
|
15756275 |
2005 |
|
rs878853646
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, some mutations might have a role in this association or even in familial breast cancer, as it could be inferred from the patient with the A85T mutation.
|
19571771 |
2009 |
|
rs876660702
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results of our studies suggest that a large proportion of familial breast cancer in Iceland is the result of the 999del5 BRCA2 mutation, and it is unlikely that BRCA1 and BRCA2 germline mutations other than 999del5 and G5193A play a significant role in hereditary breast cancer in Iceland.
|
9643283 |
1998 |
|
rs861539
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggest XRCC1 Arg399Gln and XRCC3 Thr241Met DNA repair polymorphisms as important biomarkers to sporadic breast cancer susceptibility, as well as, RAD51 G135C polymorphism as a real risk modifier in familial breast cancer cases.
|
17063276 |
2007 |
|
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 |
|
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 |
|
rs80357007
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a previous study, two <i>de novo</i> BRCT missense mutations of <i>BRCA1</i>, G1763V and L1786P were identified from Chinese females with familial breast cancer.
|
29113215 |
2017 |
|
rs799917
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The association of four variants was identified within BRCA1 gene (c.442.58 delT, c.2311T>C, c.2612C>T and c.4308T>C) to familial breast cancer across their wild genotypes. miR-1179 was selected as potential miR that targets the region of BRCA1 mRNA containing the c.2311T>C variant within the TT genotype.
|
25273865 |
2014 |
|
rs796096871
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicate for the first time the importance of AKAP10 Ile646Val for familial breast cancer susceptibility.
|
16956908 |
2007 |
|
rs77724903
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs770140945
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data establish seven SNPs - hPRB +331G/A, AR CAG repeat, CYP19 (TTTA)10, CYP1A1 MspI, VDR FOK1, XRCC1 Arg194Trp and XRCC2 Arg188His - as small but significant risk factors for spontaneous, non-hereditary breast cancer.
|
16835078 |
2006 |
|
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 |
|
rs759412116
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggest XRCC1 Arg399Gln and XRCC3 Thr241Met DNA repair polymorphisms as important biomarkers to sporadic breast cancer susceptibility, as well as, RAD51 G135C polymorphism as a real risk modifier in familial breast cancer cases.
|
17063276 |
2007 |
|
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 |
|
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 |
|
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 |