|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
FANCJ is also mutated in the cancer prone syndrome Fanconi anemia, for which patient cells are characterized by extreme sensitivity to agents that generate DNA interstand crosslinks.
|
20658644 |
2010 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The established DNA interacting components (FANCM, FANCI, FANCD2, and FANCJ) account only for approximately 5% of all FA patients, an observation that raises doubt concerning the roles of FA proteins in DNA repair.
|
20515746 |
2010 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The phenotype of microsatellite signal instability is specific for FANCJ apart from the intact FA pathway, and is consistent with DSBs at microsatellites genome-wide in FANCJ depleted cells following replication stress.
|
27179029 |
2016 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Interplay between FANCJ and MRE11 ensures a normal response to IR-induced DSBs, whereas FANCJ involvement in ICL repair is regulated by MLH1 and the FA pathway.
|
23530059 |
2013 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
This finding, coupled with evidence showing that DT40 cells deficient in both FAN1 and FANCC, or FAN1 and FANCJ, exhibited increased sensitivity to cisplatin compared with cells lacking only FAN1, suggests that, despite its association with FANCD2/FANCI, FAN1 in DT40 cells participates in the processing of damage induced by interstrand cross-linking-generating agents also independently of the classical FA pathway.
|
21115814 |
2010 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
|
16116424 |
2005 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
BRIP1 is a component of the Fanconi Anemia/BRCA pathway responsible for DNA reparation via helicase activity.
|
30230034 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Fanconi anemia (FA) results from mutations in a group of genes whose products, including BRCA2 and BACH1/BRIP1, are known to function in one common pathway (the FA-BRCA pathway) to guard genome integrity, especially when challenged by DNA crosslinking agents, such as Cisplatin and mitomycin C (MMC).
|
17106252 |
2006 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Some of the genes causing the Fanconi anemia (FA) syndrome, such as BRCA2, BRIP1, PALB2, and RAD51C, are associated with high or moderate risk of developing breast cancer.
|
22383991 |
2012 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
FANCJ is a DNA helicase that is genetically linked to Fanconi anemia, breast cancer, and ovarian cancer.
|
24573678 |
2014 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Three of the known FA genes are also high-risk (FANCD1/BRCA2) or moderate-risk (FANCN/PALB2 and FANCJ/BRIP1) breast cancer susceptibility genes, which makes all members of the FA pathway particularly attractive breast cancer candidate genes.
|
19737859 |
2009 |