Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies.
|
31467304 |
2019 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The FANCC c.67delG mutation in 13 members of his family confirmed a FA diagnosis in two of his siblings and identified heterozygous carriers.
|
31044565 |
2019 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Fanconi anemia complementation group C (FANCC) is a component of FA nuclear clusters.
|
29901137 |
2018 |
Fanconi Anemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan.
|
28425259 |
2017 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
We generated loss-of-function human haploid cells for FA complementation group C (FANCC), a gene encoding a component of the FA core complex, and used genome-wide CRISPR libraries as well as insertional mutagenesis to identify synthetic viable (genetic suppressor) interactions for FA.
|
29089570 |
2017 |
Fanconi Anemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Fanconi Anemia Proteins Function in Mitophagy and Immunity.
|
27133164 |
2016 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Discussing and managing hematologic germ line variants.
|
27881370 |
2016 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Lung adenocarcinomas in both male and female patients were associated with (a) genotypic polymorphisms of FANCC and FANCD1; (b) a combined effect of harboring a higher number of high-risk genotypes and smoking/passive smoking; (c) specific interactions of multiple genes, proteins encoded by which have been known to work jointly within the FA pathway.
|
26842001 |
2016 |
Fanconi Anemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.
|
26990548 |
2016 |
Fanconi Anemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
To understand the function of FA proteins in cellular division events, we investigated the interaction between Stathmin-1 (STMN1) and the FA group C (FANCC) protein.
|
26466335 |
2015 |
Fanconi Anemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
|
26740942 |
2015 |
Fanconi Anemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
|
24584348 |
2014 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
FANCC mutations are often the cause of FA in patients of Ashkenazi Jewish (AJ) ancestry, and we identified 2 novel FANCC mutations in 2 patients of AJ ancestry.
|
23613520 |
2013 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
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).
|
23779253 |
2013 |
Fanconi Anemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
|
22778927 |
2012 |
Fanconi Anemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
|
23028338 |
2012 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
CTD_human |
Fanconi anemia links reactive oxygen species to insulin resistance and obesity.
|
22482891 |
2012 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
We found that FANCC- and FANCD2-mutant cells were unexpectedly more sensitive to platinum drugs than FANCA-mutant cells, and mono-ubiquitination of FANCD2, which is mediated by the FANCA and FANCC containing FA core complex was not required for platinum resistance.
|
20034732 |
2010 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The c.165+1G>T germline mutation in the 5'ss of exon 2 of the Fanconi anemia C (FANCC) gene commonly predicted to prevent correct splicing was identified in nine FA patients from three pedigrees.
|
20869034 |
2010 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Accordingly, a homozygous inactivating FANCC nonsense mutation (c.553C > T, p.R185X) was identified in HuH-7, resulting in partial transcriptional skipping of exon 6 and leading to the classic cellular FA hypersensitivity phenotype; HuH-7 cells exhibited a strongly reduced proliferation rate and a pronounced G2 cell cycle arrest at distinctly lower concentrations of ICL-agents than a panel of non-isogenic, FA pathway-proficient HCC cell lines.
|
20509860 |
2010 |
Fanconi Anemia
|
0.700 |
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
|
0.700 |
Biomarker
|
disease |
BEFREE |
Tumor necrosis factor alpha (TNF-alpha) production is abnormally high in Fanconi anemia (FA) cells and contributes to the hematopoietic defects seen in FA complementation group C-deficient (Fancc(-/-)) mice.
|
19850743 |
2009 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
How the fanconi anemia pathway guards the genome.
|
19686080 |
2009 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Here, we show that a 14-hour transduction period allows a foamyviral vector construct expressing the human FANCC cDNA to efficiently transduce murine FA stem cells with 1 to 2 proviral integrations per genome.
|
18684868 |
2008 |