|
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 |
CLINVAR |
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.
|
26556299 |
2016 |
|
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 |
CLINVAR |
New concepts on BARD1: Regulator of BRCA pathways and beyond.
|
26738429 |
2016 |
|
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 |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
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 |
CLINVAR |
Crystal structure of the BARD1 BRCT domains.
|
17550235 |
2007 |
|
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
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 |
CLINVAR |
Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.
|
20077502 |
2010 |
|
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 |