rs77724903
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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 |
rs144567652
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here, we studied the prevalence of three other FANCM variants: c.5791C>T, which has been reported to predispose to familial breast cancer, and the c.4025_4026delCT and c.5293dupA variants recently identified in Finnish cancer patients.
|
28702895 |
2017 |
rs144567652
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In summary, we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer.
|
26130695 |
2015 |
rs28997576
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population.
|
22544576 |
2012 |
rs28363284
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A RAD51D variant, E233G, was initially identified as a potential susceptibility allele in high-risk, site-specific, familial breast cancer.
|
19347880 |
2009 |
rs1042522
|
|
|
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 |
rs1131691014
|
|
|
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 |
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 |
rs34434221
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our previous study has shown that AKAP13 Lys526Gln is associated with familial breast cancer (OR=1.58).
|
16956908 |
2007 |
rs886039958
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our previous study has shown that AKAP13 Lys526Gln is associated with familial breast cancer (OR=1.58).
|
16956908 |
2007 |
rs28997576
|
|
|
0.020 |
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 |
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 |
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 |
rs1042522
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The R72P P53 mutation is associated with familial breast cancer in Jewish women.
|
15756275 |
2005 |