|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone marrow failure (BRCA1/FANCS).
|
28837162 |
2018 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
The identification of breast cancer susceptibility genes (for example, BRCA1/FANCS and BRCA2/FANCD1) as being major players in the FA pathway has led to a surge in molecular studies, resulting in the concept of the FA-BRCA pathway.
|
28631178 |
2017 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Germ-line mutations in PALB2 lead to a familial predisposition to breast and pancreatic cancer or to Fanconi Anemia subtype N. PALB2 performs its tumor suppressor role, at least in part, by supporting homologous recombination-type double strand break repair (HR-DSBR) through physical interactions with BRCA1, BRCA2, and RAD51.
|
23657012 |
2013 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
|
16116424 |
2005 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Fanconi anemia (FA) and cells lacking functional BRCA1 and BRCA2 proteins are hypersensitive to interstrand crosslinking (ICL) agents and show increased numbers of chromosomal breaks and radials.
|
15084315 |
2004 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
The proteins involved in FA act coordinately in the cellular response to DNA cross-links in a pathway that has been shown to interact physically or functionally with a variety of other proteins involved in DNA repair or cell cycle control, notably BRCA1, Rad51,ATM,ATR, and Nbs1.
|
16207587 |
2005 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations in 17 genes (FANCA-FANCS) have been identified in FA patients, defining 17 complementation groups.
|
26119737 |
2015 |
|
Fanconi Anemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the presence of biallelic BRCA1 mutations in a woman with multiple congenital anomalies consistent with a Fanconi anemia-like disorder and breast cancer at age 23.
|
25472942 |
2015 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Several components of the Fanconi anaemia (FA) family of proteins allow the formation of the DNA repair complex foci formed by proteins such as BRCA1/2 and RAD51.
|
16679306 |
2006 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
We found that MA-17 also down-regulated DNA homologous recombination and the Fanconi anemia pathway (FANCA, BRCA1, and RAD51C) in A549 cells.
|
30793218 |
2019 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Using chromosomal stability after ICL damage as the end point, we find that BRCA1 functions in more than just the FA pathway for genome maintenance, whereas BRCA2 appears to act predominantly in the FA pathway.
|
12967657 |
2003 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Therefore, the ATR- and BRCA1-mediated FA pathway is required for the activation of a G2/M checkpoint and for DNA damage repair in response to the endogenous signal of rereplication.
|
16738325 |
2006 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
We found that acquired cisplatin-resistant NSCLC-derived A549/DR cells exhibited markedly enhanced FA and HR repair pathway capacities compared to its parental A549 cells and another independent NSCLC-derived cell line, Calu-1, which possesses a moderate innate resistance to cisplatin. siRNA-mediated silencing of the FA-associated genes FANCL and RAD18 and the HR-associated genes BRCA1 and BRCA2 significantly potentiated the sensitivity of A549/DR cells to cisplatin compared to A549 and Calu-1 cells, suggesting that the acquired cisplatin resistance in A549/DR cells may be attributed to enhanced FA and HR pathway capacities responsible for ICL repair.
|
27473273 |
2016 |
|
Fanconi Anemia
|
0.600 |
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
|
0.600 |
Biomarker
|
disease |
BEFREE |
Using targeted capture and massively parallel genomic sequencing, 151 subjects with USC were assessed for germline mutations in 30 tumor suppressor genes, including BRCA1 (breast cancer 1, early onset), BRCA2, the DNA mismatch repair genes (MLH1 [mutL homolog 1], MSH2 [mutS homolog 2], MSH6, PMS2 [postmeiotic segregation increased 2]), TP53 (tumor protein p53), and 10 other genes in the Fanconi anemia-BRCA pathway.
|
22811390 |
2013 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition.
|
29133208 |
2018 |
|
Fanconi Anemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Inactivating and truncating mutations of the nuclear BRCA1-interacting protein 1 (BRIP1) have been shown to be the major cause of Fanconi anaemia and, due to subsequent alterations of BRCA1 function, predispose to breast cancer (BC).
|
17504528 |
2007 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
The BRCA1 associated C-terminal helicase (BACH1, designated FANCJ) is implicated in the chromosomal instability genetic disorder Fanconi anemia (FA) and hereditary breast cancer.
|
17596542 |
2007 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
In support of this hypothesis, the set of identified genes included known determinants of olaparib sensitivity, such as BRCA1, RAD51, and Fanconi's anemia susceptibility genes.
|
24240700 |
2014 |
|
Fanconi Anemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Other diseases combining the phenotype of chromosomal instabilities and neoplastic development are Fanconi anemia and breast cancers associated with mutant BRCA1 and BRCA2 genes.
|
12407692 |
2002 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Surprisingly, depleting BRCA1 or FANCD2 (Fanconi anemia [FA] proteins) or BRG1, a mSWI/SNF subunit, caused HME cells to undergo spontaneous epithelial-to-mesenchymal transition (EMT) and aberrant differentiation.
|
27373334 |
2016 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
BACH1 (BRCA1-associated C-terminal helicase 1), the product of the BRIP1 {BRCA1 [breast cancer 1, early onset]-interacting protein C-terminal helicase 1; also known as FANCJ [FA-J (Fanconi anaemia group J) protein]} gene mutated in Fanconi anaemia patients from complementation group J, has been implicated in DNA repair and damage signalling.
|
22032289 |
2012 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
One of the more recently identified FA proteins, shown to be responsible for complementation of the FA complementation group J, is the BRCA1 Associated C-terminal Helicase (BACH1, designated FANCJ), originally identified as a protein associated with breast cancer.
|
19519404 |
2009 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Since the Fanconi anemia (FA) pathway coordinates several DNA repair pathways, including homologous recombination in which BRCA1 and BRCA2 play important roles, we investigated whether this pathway harbors other predictors of PARP inhibitor sensitivity.
|
25583207 |
2015 |
|
Fanconi Anemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Here, we show that dual incision by NER endonucleases, including XPF and XPG, promotes the S-phase accumulation of the BRCA1 and Fanconi anemia-associated DNA helicase FANCJ to sites of UV-induced damage.
|
24351291 |
2014 |