Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77724903
rs77724903
RET
T 0.700 CausalMutation CLINVAR

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

2006

dbSNP: rs144567652
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

dbSNP: rs144567652
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

dbSNP: rs28997576
rs28997576
0.020 GeneticVariation BEFREE The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population. 22544576

2012

dbSNP: rs28363284
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

dbSNP: rs1042522
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

dbSNP: rs1131691014
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

dbSNP: rs878854066
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

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: rs886039958
rs886039958
0.020 GeneticVariation BEFREE Our previous study has shown that AKAP13 Lys526Gln is associated with familial breast cancer (OR=1.58). 16956908

2007

dbSNP: rs28997576
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

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: rs886039958
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

dbSNP: rs1042522
rs1042522
0.020 GeneticVariation BEFREE The R72P P53 mutation is associated with familial breast cancer in Jewish women. 15756275

2005