BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28997576
rs28997576
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.080 GeneticVariation BEFREE BARD1 Cys557Ser was associated with an increased BC risk (P = 0.04, OR = 3.4 [95 % CI 1.2-10.2]) among cases belonging to families with a strong family history of BC. 22544576 2012
dbSNP: rs28997576
rs28997576
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.080 GeneticVariation BEFREE The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95% CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95% CI: 0.59-1.29) in BRCA2 carriers. 21393566 2011
dbSNP: rs28997576
rs28997576
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.080 GeneticVariation BEFREE This meta-analysis strongly suggests that BARD1 Cys557Ser mutation is not associated with increased breast cancer risk. 21809034 2011
dbSNP: rs28997576
rs28997576
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.080 GeneticVariation BEFREE We conclude that the BARD1 Cys557Ser variant is not associated with breast cancer risk. 18481171 2009
dbSNP: rs28997576
rs28997576
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.080 GeneticVariation BEFREE There was no clear association between the presence of the BARD1 Cys557Ser allele and breast cancer in Poland. 17333333 2008
dbSNP: rs28997576
rs28997576
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.080 GeneticVariation BEFREE These results provide further evidence that BARD1 Cys557Ser confers a slightly increased risk of breast cancer in women. 16825437 2006
dbSNP: rs28997576
rs28997576
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.080 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: rs28997576
rs28997576
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.080 GeneticVariation BEFREE Lobular and medullary breast carcinomas were overrepresented amongst Cys557Ser carriers. 16768547 2006
dbSNP: rs1048108
rs1048108
Entrez Id: 580;101928103
Gene Symbol: BARD1;SNHG31
BARD1;SNHG31
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE SNP sites rs2229571 and rs1048108 of BARD1 are associated with a lower risk of breast cancer but not rs2070094. 23966609 2013
dbSNP: rs2229571
rs2229571
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE SNP sites rs2229571 and rs1048108 of BARD1 are associated with a lower risk of breast cancer but not rs2070094. 23966609 2013
dbSNP: rs1048108
rs1048108
Entrez Id: 580;101928103
Gene Symbol: BARD1;SNHG31
BARD1;SNHG31
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Among the 378Ser variant allele carriers, the 24Pro/Pro wild-type homozygote was associated with a significantly increased breast cancer risk (adjusted OR=1.81, 95% CI=1.11-2.95), but the subjects having 24Pro/Ser or Ser/Ser variant genotypes had a significantly decreased risk (adjusted OR=0.74, 95% CI=0.56-0.99). 17028982 2007
dbSNP: rs2229571
rs2229571
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE These findings indicate that the potentially functional polymorphisms Pro24Ser and Arg378Ser in BARD1 may jointly contribute to the susceptibility of breast cancer. 17028982 2007
dbSNP: rs113211432
rs113211432
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
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: rs2070094
rs2070094
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
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: rs386654966
rs386654966
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
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: rs113211432
rs113211432
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of postmenopausal women at a high risk for developing breast cancer. 14550946 2003
dbSNP: rs2070094
rs2070094
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of postmenopausal women at a high risk for developing breast cancer. 14550946 2003
dbSNP: rs386654966
rs386654966
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Genetic polymorphism of BARD1 (Val/Met 507) could be useful in the selection of postmenopausal women at a high risk for developing breast cancer. 14550946 2003
dbSNP: rs376256852
rs376256852
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Two variants (Thr598Ile and Ile692Thr) were not detected in any of the 659 sporadic breast cancer cases and controls and were assessed for segregation with breast cancer in the families of the probands. 17972171 2008
dbSNP: rs587782555
rs587782555
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Two variants (Thr598Ile and Ile692Thr) were not detected in any of the 659 sporadic breast cancer cases and controls and were assessed for segregation with breast cancer in the families of the probands. 17972171 2008