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Fanconi anemia, complementation group C

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: FAA, FANCG, Fam, CAN, LCE
Papers on FANCC
Hypomethylation within gene promoter regions and type 1 diabetes in discordant monozygotic twins.
Noble et al., Berkeley, United States. In J Autoimmun, Feb 2016
In the epigenome CpG set, the greatest methylation differences were observed in MAGI2, FANCC, and PCDHB16, (DNAm difference range: 6.9%-16.1%).
The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.
Friedman et al., Israel. In Cancer Genet, Jan 2016
UNASSIGNED: Cancer risks in heterozygous mutation carriers of the ATM, BLM, and FANCC genes are controversial.
Identification of novel biomarkers in chronic immune thrombocytopenia (ITP) by microarray-based serum protein profiling.
Salama et al., Berlin, Germany. In Br J Haematol, Jan 2016
In addition to oncoproteins and tumour-suppressor proteins, including apoptosis regulator BCL2, breast cancer type 1 susceptibility protein (BRCA1), Fanconi anaemia complementation group C (FANCC) and vascular endothelial growth factor A (VEGFA), we detected six anti-nuclear autoantibodies in a subset of ITP patients: anti-PCNA, anti-SmD, anti-Ro/SSA60, anti-Ro/SSA52, anti-La/SSB and anti-RNPC antibodies.
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
Savoia et al., Trieste, Italy. In Mol Genet Genomic Med, Nov 2015
Comparing the IPGM and Sanger sequencing output of FANCA,FANCC, and FANCG we found no false-positive and a few false-negative variants, which led to high sensitivity (95.58%) and specificity (100%) at least for these two most frequently mutated genes.
[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].
Foretová et al., In Klin Onkol, 2014
RESULTS: There were several deleterious (frame-shift/nonsense) mutations detected in ATM, BAP1, FANCC, FANCI, PMS2, SBDS, ERCC2, RECQL4 genes.
Hereditary breast and ovarian cancer susceptibility genes (review).
Matsuura et al., Kashihara, Japan. In Oncol Rep, 2013
Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN).
Association of FANCC polymorphisms with FEV1 decline in aspirin exacerbated respiratory disease.
Shin et al., Seoul, South Korea. In Mol Biol Rep, 2012
FANCC polymorphisms might be associated with the obstructive symptoms in allergic diseases.
Oxidative stress in Fanconi anaemia: from cells and molecules towards prospects in clinical management.
Degan et al., Napoli, Italy. In Biol Chem, 2012
Some FA gene products involved in redox homeostasis can be summarized as follows: (a) FANCA, FANCC, and FANCG interact with cytochrome P450-related activities and/or respond to oxidative damage; (b) FANCD2 in OS response interacts with forkhead box O3 and ataxia telangiectasia mutated protein; (c) FANCG is found in mitochondria and interacts with PRDX3, and FA-G cells display distorted mitochondria and decreased peroxidase activity; (d) FANCJ (BACH1/BRIP1) is a repressor of haeme oxygenase-1 gene and senses oxidative base damage; (e) antioxidants, such as tempol and resveratrol decrease cancer incidence and haematopoietic defects in Fancd2(-/-) mice.
Upregulation of Fanconi anemia DNA repair genes in melanoma compared with non-melanoma skin cancer.
Matta et al., In J Invest Dermatol, 2011
FA DNA repair genes, FANCD2, FANCL, and FANCC, are transcriptionally upregulated differently in melanoma compared with non-melanoma skin cancer
9q22.3 Microdeletion
Hudgins et al., Seattle, United States. In Unknown Journal, 2011
The minimal critical region that is deleted recurrently in affected individuals (but not in controls) is 352 kb, and includes PTCH1 and FANCC.
Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility.
Gyllensten et al., Uppsala, Sweden. In Gynecol Oncol, 2011
genetic diversity in FANCA, FANCC and FANCL does not support an association of these genes with cervical cancer susceptibility in the Swedish population.
Fanconi anemia.
Soulier, Paris, France. In Hematology Am Soc Hematol Educ Program, 2010
Fifteen FANC genes have been identified to date, the most prevalent being FANCA, FANCC, FANCG, and FANCD2.
Cytoplasmic FANCA-FANCC complex interacts and stabilizes the cytoplasm-dislocalized leukemic nucleophosmin protein (NPMc).
Pang et al., Cincinnati, United States. In J Biol Chem, 2010
Cytoplasmic FANCA-FANCC complex was essential for NPMc stability.
Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.
Schaal et al., Düsseldorf, Germany. In Am J Hum Genet, 2010
Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in Fanconi anemia patients and is enhanced by delivery of suppressor U1 snRNAs.
Ku70 corrupts DNA repair in the absence of the Fanconi anemia pathway.
Patel et al., Cambridge, United Kingdom. In Science, 2010
study found genetic interaction between Fanconi anemia(FA)gene FANCC and Ku70; results indicate FA pathway promotes homologous recombination repair of DNA double-strand breaks (DSBs) by counteracting Ku70; suggest this achieved by modification of DSBs
Assembling an orchestra: Fanconi anemia pathway of DNA repair.
Zhang et al., Miami, United States. In Front Biosci, 2009
Although all thirteen FA complementation groups show similar clinical and cellular phenotypes, approximately 85% of patients presented defective FANCA, FANCC, or FANCG.
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
Auerbach et al., New York City, United States. In Nat Genet, 2005
Seven Fanconi anemia-associated proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL) form a nuclear Fanconi anemia core complex that activates the monoubiquitination of FANCD2, targeting FANCD2 to BRCA1-containing nuclear foci.
Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors.
D'Andrea et al., London, United Kingdom. In Nat Med, 2003
This pathway regulates cisplatin sensitivity and is governed by the coordinate activity of six genes associated with Fanconi anemia (FANCA, FANCC, FANCD2, FANCE, FANCF and FANCG) as well as BRCA1 and BRCA2 (FANCD1).
Fanconi anemia group C protein prevents apoptosis in hematopoietic cells through redox regulation of GSTP1.
Buchwald et al., Toronto, Canada. In Nat Med, 2001
The Fanconi anemia group C protein (FANCC) plays an important role in hematopoiesis by ensuring the survival of hematopoietic progenitor cells through an unknown mechanism.
Preimplantation diagnosis for Fanconi anemia combined with HLA matching.
Kuliev et al., Chicago, United States. In Jama, 2001
DESIGN: DNA analysis for the IVS 4 + 4 A-->T (adenine to thymine) mutation in the FA complement C (FANCC) gene in single blastomeres, obtained by biopsy of embryos, to identify genetic status and HLA markers of each embryo before intrauterine transfer.
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