Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042028
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

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

2005

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: rs1045485
rs1045485
0.010 GeneticVariation BEFREE Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant. 16251207

2006

dbSNP: rs1057519975
rs1057519975
0.010 GeneticVariation BEFREE RAD51 135G>C contributes to hereditary breast cancer in Serbian population, with CC genotype as a risk factor. 24114315

2014

dbSNP: rs1058808
rs1058808
0.010 GeneticVariation BEFREE A case-control study analysing a cohort of 348 German familial breast cancer cases and 960 corresponding controls showed no significant association of either Ile655Val (OR = 1.05, 95% CI = 0.82-1.34, P = 0.728) or Ala1170Pro (OR = 0.94, 95% CI = 0.74-1.20, P = 0.632) with familial breast cancer risk. 15550452

2005

dbSNP: rs1060915
rs1060915
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

dbSNP: rs1064795860
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

dbSNP: rs11075884
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

dbSNP: rs11200014
rs11200014
0.010 GeneticVariation BEFREE The data showed that the homozygotes at each minor allele, rs11200014 (AA), rs1219648 (GG), rs2420946 (TT), and rs2981582 (TT), were significantly associated with an increased risk of early-onset non-familial breast cancer. 22374580

2012

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: rs1131691014
rs1131691014
0.020 GeneticVariation BEFREE The R72P P53 mutation is associated with familial breast cancer in Jewish women. 15756275

2005

dbSNP: rs1131691036
rs1131691036
0.010 GeneticVariation BEFREE RAD51 135G>C contributes to hereditary breast cancer in Serbian population, with CC genotype as a risk factor. 24114315

2014

dbSNP: rs113211432
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

dbSNP: rs1136201
rs1136201
0.010 GeneticVariation BEFREE A case-control study analysing a cohort of 348 German familial breast cancer cases and 960 corresponding controls showed no significant association of either Ile655Val (OR = 1.05, 95% CI = 0.82-1.34, P = 0.728) or Ala1170Pro (OR = 0.94, 95% CI = 0.74-1.20, P = 0.632) with familial breast cancer risk. 15550452

2005

dbSNP: rs11571833
rs11571833
0.010 GeneticVariation BEFREE Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context. 26455428

2015

dbSNP: rs1186364060
rs1186364060
0.010 GeneticVariation BEFREE The analysis of p53 MspI 1798G>A, which is completely linked to p53PIN3, showed a significantly increased familial breast cancer risk for carriers of the 16 bp insertion/duplication, following a recessive mode (OR = 2.15, 95% CI = 1.12-4.11). 16501249

2006

dbSNP: rs121917739
rs121917739
0.010 GeneticVariation BEFREE Few studies have investigated the role of coding region variation in the RAD51 gene in familial breast cancer, with only one coding region variant--exon 6 c.449G>A (p.R150Q)--reported to date. 16762046

2006

dbSNP: rs1219648
rs1219648
0.010 GeneticVariation BEFREE The data showed that the homozygotes at each minor allele, rs11200014 (AA), rs1219648 (GG), rs2420946 (TT), and rs2981582 (TT), were significantly associated with an increased risk of early-onset non-familial breast cancer. 22374580

2012

dbSNP: rs12255372
rs12255372
0.010 GeneticVariation BEFREE Our results suggest a possible influence of TCF7L2 rs12255372 on the risk of familial BC. 17109766

2006

dbSNP: rs12516
rs12516
0.010 GeneticVariation BEFREE SNP c.*1287C>T (rs12516) of the BRCA1 gene may have potential use as a genetic marker of an increased risk of developing breast cancer and likely represents a non-coding sequence variation in BRCA1 that impacts BRCA1 function and leads to increased early-onset and/or familial breast cancer risk in the Turkish population. 25339023

2014

dbSNP: rs13010627
rs13010627
0.010 GeneticVariation BEFREE Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant. 16251207

2006

dbSNP: rs1302297709
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

dbSNP: rs13387042
rs13387042
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

dbSNP: rs1346044
rs1346044
WRN
0.010 GeneticVariation BEFREE Genotyping analyses, performed on 816 BRCA1/2 mutation-negative German familial breast cancer patients and 1012 German controls, revealed a significant association of the WRN Cys1367Arg polymorphism with familial breast cancer (OR = 1.28, 95% CI 1.06-1.54) and high-risk familial breast cancer (OR = 1.32, 95% CI 1.06-1.65). 16501249

2006