|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
FANCJ mutations are associated with Fanconi anemia or breast cancer.
|
23161009 |
2013 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
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 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The rare hereditary disorder Fanconi anemia (FA) can be caused by mutations in components of the FA core complex (FancA/B/C/E/F/G/L/M), a key regulator FancD2, the breast cancer susceptibility protein BRCA2/FancD1, or the newly identified FancJ/BRIP1 helicase.
|
17352736 |
2007 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
By looking at the genetic etiology of FA and DSD, we have identified p.[Arg798*];[Arg798*] mutation in FANCJ (OMIM #605882) gene responsible for FA and p.[Arg108*];[Arg1497Trp] in EFCAB6 (Gene #64800) gene responsible for DSD.
|
31124294 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although our study unlikely involves FANCJ as a high-risk predisposition gene in non-BRCA1/2 high-risk French Canadian families, the possible association of FANCJ missense variants with phenotypes associated with FA, such as childhood cancer, cannot be excluded.
|
18414782 |
2008 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The FANCJ DNA helicase, mutated in another chromosomal instability disorder known as Fanconi Anemia, is an important player that likely coordinates with BLM in the balancing act.
|
30209988 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
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 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Along these lines, in melanoma we found several somatic mutations in FANCJ, some of which were previously identified in hereditary breast cancer and Fanconi anemia.
|
24351291 |
2014 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although the FA pathway has been classically described in terms of interstrand cross-link (ICL) repair, the cellular defects associated with FANCJ mutation extend beyond the reduced ability to repair ICLs and involve other types of DNA structural roadblocks to replication.
|
18426915 |
2008 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Germline BRIP1 mutations are associated with breast cancer and Fanconi anemia.
|
17342202 |
2007 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fanconi anemia (FA) associated genes [FANCA, -B, -C, FANCD1(BRCA2), -D2, -E, -F, -G, -I, -L, -M, FANCN (PALB2), FANCJ(BRIP1) and FA-linked BRCA1] encode proteins of DNA damage response pathways mutated in FA patients.
|
21567085 |
2011 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, inactivating truncating mutations of BRIP1, similar to those in BRCA2, cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers.
|
17033622 |
2006 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
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 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in 16 genes (FANCA, B, C, D1, D2, E, F, G, I, J, L, M, N, O, P, and Q) have been identified in patients, with the Fanconi anemia subtype J (FA-J) resulting from homozygous mutations in the FANCJ gene.
|
25070891 |
2014 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BS and FA group J arise from mutations in the BLM and FANCJ genes, respectively, which encode DNA helicases.
|
21240188 |
2011 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Aberrations in BRIP1 have been mainly associated with the development of breast cancer (BC), ovarian cancer, and type J Fanconi anemia.
|
26709662 |
2016 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
BRIP1 is a BRCA1 associated protein that is mutated in a fraction of familial breast cancer and Fanconi anemia cases.
|
20567916 |
2010 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Because brip1 mutant cells are proficient for ubiquitination of FANCD2 protein, our data indicate that BRIP1 has a function in the Fanconi anemia pathway that is independent of BRCA1 and downstream of FANCD2 activation.
|
16116421 |
2005 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Together, these data implicate FANCJ as a key factor required to counteract MSI, which is functionally distinct from its role in the FA pathway.
|
26637282 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
FANCJ has been proposed to function downstream of FANCD2 monoubiquitination, a critical event in the FA pathway.
|
19519404 |
2009 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
FANCJ is one of 17 genes mutated in FA-patients, comprises a DNA helicase that is vital for properly maintaining genomic stability and is known to function in the FA-BRCA DNA repair pathway.
|
26336824 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance.
|
16116423 |
2005 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Based on evidence that BLM and FANCJ interact we suggest that crosstalk between BLM and FA pathways is more complex than previously thought.
|
22024395 |
2012 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
XPD and FANCJ have been connected to the genetic instability syndromes xeroderma pigmentosum and Fanconi anemia.
|
20137776 |
2010 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
FANCJ was identified by its association with breast cancer, and is implicated in Fanconi Anemia.
|
19099189 |
2009 |