|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
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
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
|
26315354 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
|
25186627 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Note of clarification of data in the paper entitled association between BRIP1 (BACH1) polymorphisms and breast cancer risk.
|
25783186 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Characterized FANCJ missense mutations associated with breast cancer or Fanconi anemia interfere with FANCJ helicase activity required for DNA repair and the replication stress response.
|
23276657 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
|
26315354 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.
|
25058500 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.
|
26270727 |
2015 |
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Together, our data suggest that CXCR3-B mediates a growth-inhibitory signal in breast cancer cells through the modulations of nuclear translocation of Bach-1 and Nrf2 and down-regulation of HO-1.
|
24366869 |
2014 |
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
However, the phenotypic effects of BRIP1 dysfunction and its role in breast cancer tumorigenesis remain unclear.
|
24040146 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deleterious mutations in few genes involved in the Fanconi complex are responsible for Fanconi anemia at the homozygous state and breast cancer (BC) susceptibility at the heterozygous state (BRCA2, PALB2, BRIP1).
|
22725699 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
Furthermore, more frequent, but less penetrant, mutations have been identified in families with breast cancer clustering, in moderate or low penetrant genes, such as CHEK2, ATM, PALB2, and BRIP1.
|
23586058 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
FANCJ mutations are associated with Fanconi anemia or breast cancer.
|
23161009 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Four haplotypes within two genes (NBS1 and BRIP1) involved in the monoubiquitinated FANCD2-DNA damage-repair pathway are significantly associated with increased sporadic breast cancer risk, while one haplotype within NBS1 is correlated with an increased risk of familial or early-onset breast cancer, indicating that specific haplotypes may be distinct predictors of breast cancer.
|
23357080 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although investigated by fewer studies, we have also studied the risk associated with the two additional BRIP1 polymorphisms, C47G and G64A, and breast cancer riskWe conducted searches of the published literature in MEDLINE through PubMed up to October 2012.
|
23225146 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The BRCA1-associated FANCJ helicase is among those helicases able to unwind G4 DNA in vitro, and FANCJ mutations are associated with breast cancer and linked to Fanconi anemia.
|
23935105 |
2013 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although inherited breast cancer has been associated with germline mutations in genes that are functionally involved in the DNA homologous recombination repair (HRR) pathway, including BRCA1, BRCA2, TP53, ATM, BRIP1, CHEK2 and PALB2, about 70% of breast cancer heritability remains unexplained.
|
23300655 |
2012 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Overall, 149 women, all of high risk, cancer prone families of Ashkenazi origin, were genotyped for BRIP1 mutations: 127 with breast cancer, 22 with ovarian cancer.
|
22692731 |
2012 |
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
BEFREE |
At present, the role of BRIP1 on BC susceptibility in men is unknown.
|
21165771 |
2011 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in BRIP1 confer high risk of ovarian cancer.
|
21964575 |
2011 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control.
|
21127055 |
2011 |
|
Malignant neoplasm of breast
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in BRIP1 confer high risk of ovarian cancer.
|
21964575 |
2011 |
|
Malignant neoplasm of breast
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in BRIP1 confer high risk of ovarian cancer.
|
21964575 |
2011 |
|
Malignant neoplasm of breast
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.
|
22006311 |
2011 |