|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The N-terminus of the Breast Cancer-1 predisposition protein (BRCA1) associates with the BRCA1-associated RING domain-1 protein (BARD1) to form a heterodimer, which exhibits ubiquitin ligase activity that is abrogated by known cancer-associated BRCA1 missense mutations.
|
16403807 |
2006 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lack of association between BARD1 Cys557Ser variant and breast cancer risk: a meta-analysis of 11,870 cases and 7,687 controls.
|
21809034 |
2011 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Twenty patients (19%) were identified to carry deleterious mutations, of whom 13 (12%) were in the BRCA1 or BRCA2, 6 (6%) were in five other known breast cancer predisposition genes and 1 patient had a mutation in both BRCA2 and BARD1.
|
26757417 |
2016 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
BARD1 is indispensable for cell viability, so loss-of-function mutations are rare, but mutations and truncations that alter its function might be involved in the pathogenesis of breast cancer.
|
16633366 |
2006 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results provide further evidence that BARD1 Cys557Ser confers a slightly increased risk of breast cancer in women.
|
16825437 |
2006 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk.
|
21393566 |
2011 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the BARD1 Cys557Ser variant is not associated with breast cancer risk.
|
18481171 |
2009 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The breast cancer-derived BARD1-interaction-deficient mutant, BRCA1(C61G), does not exhibit ubiquitin ligase activity in vitro.
|
11278247 |
2001 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian families with high risk of breast cancer.
|
19197335 |
2009 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Carriers of the common Icelandic BRCA2 999del5 mutation were found to have their risk of breast cancer further increased if they also carried the BARD1 variant: the frequency of the BARD1 variant allele was 0.047 (OR = 3.11, 95% CI 1.16-8.40, p = 0.046) in 999del5 carriers with breast cancer.
|
16768547 |
2006 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The breast cancer regulatory protein-1 (BRCA1)-associated RING domain 1 (BARD1) gene is mutated in a subset of breast/ovarian cancers.
|
17510055 |
2007 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using DHPLC analysis we screened the coding region of BARD1 for variants in 210 probands of breast cancer families including 129 families with no mutations in BRCA1 or BRCA2.
|
17972171 |
2008 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However,other genes, such as ATM, PALB2, BRIP1, CHEK, BARD1, while lower in frequency, may also increase breast cancer risk.
|
29093764 |
2017 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline pathogenic variants in BARD1, BRCA1, BRCA2, PALB2, and RAD51D were associated with high risk (odds ratio > 5.0) of TNBC and greater than 20% lifetime risk for overall breast cancer among Caucasians.
|
30099541 |
2018 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The connections between BRCA1/BARD1 and PR activity suggested by our findings may help explain why host mutations in BRCA1 exert a tissue specificity in preferentially elevating the risk of breast cancer.
|
21531767 |
2011 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
BARD1-mutated BC index patients showed a significantly younger mean age at first diagnosis (AAD; 42.3 years, range 24-60 years) compared with the overall study sample (48.6 years, range 17-92 years; P = 0.00347).
|
31036035 |
2019 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the BARD1 Cys557Ser allele does not appear to modify the risk of breast cancers among carriers of BRCA1 mutations, or of other predisposing mutations.
|
17333333 |
2008 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we observe that purified RINGs from a variety of functionally unrelated proteins, including promyelocytic leukemia protein, KAP-1TIF1beta, Z, Mel18, breast cancer susceptibility gene product 1 (BRCA1), and BRCA1-associated RING domain (BARD1), self-assemble into supramolecular structures in vitro that resemble those they form in cells.
|
12438698 |
2002 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that TNBC patients are enriched for pathogenic BARD1 germline mutations as compared to control samples and high BC risk families.
|
26010302 |
2016 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SNP sites rs2229571 and rs1048108 of BARD1 are associated with a lower risk of breast cancer but not rs2070094.
|
23966609 |
2013 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we provide evidence for an increased breast cancer risk associated to specific BARD1 germline mutations.
|
20077502 |
2010 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The breast cancer susceptibility gene BARD1 (BRCA1-associated RING domain protein, MIM# 601593) acts with BRCA1 in DNA double-strand break (DSB) repair and also in apoptosis initiation.
|
21344236 |
2012 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
BRCA1 or BRCA2 mutations were found in 7.3% of the subjects, 6.3% had a mutation in other breast cancer genes (PALB2, CHEK2, ATM, and BARD1), and 1.6% had mutations in genes not associated with breast cancer.
|
30933323 |
2019 |