Gene: FANCC

Alternate names for this Gene: FA3|FAC|FACC

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q22.32

Description of this Gene: FA complementation group C

Type of Gene: protein-coding

rs190889494 in FANCC gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1057519366 in FANCC gene and Colorectal Carcinoma PMID 27165003 2016 The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

rs104886456 in FANCC gene and FANCONI ANEMIA, COMPLEMENTATION GROUP C PMID 16015582 2005 Should chromosome breakage studies be performed in patients with VACTERL association?

PMID 19622403 2009 Fanconi anemia and its diagnosis.

PMID 8348157 1993 A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.

PMID 10666230 2000 The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.

PMID 15364573 2004 Intermediate DNA repair activity associated with the 322delG allele of the fanconi anemia complementation group C gene.

PMID 9207444 1997 Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.

PMID 11427142 2001 Preimplantation diagnosis for Fanconi anemia combined with HLA matching.

PMID 8639804 1996 Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity.

PMID 7492758 1995 Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population.

PMID 8081385 1994 The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population.

PMID 11520787 2001 The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality.

PMID 8128956 1994 Mutation analysis of the Fanconi anemia gene FACC.

PMID 23028338 2012 Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

PMID 11110674 2000 Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.

PMID 22701786 2012 A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.

PMID 20507306 2010 Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.

PMID 1641028 1992 Cloning of cDNAs for Fanconi's anaemia by functional complementation.

PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 20509860 2010 Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents.

PMID 8103176 1993 FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.

PMID 8844212 1996 Novel mutations and polymorphisms in the Fanconi anemia group C gene.

PMID 24584348 2014 Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

PMID 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

PMID 29439820 2018 Germline DNA-repair Gene Mutations and Outcomes in Men with Metastatic Castration-resistant Prostate Cancer Receiving First-line Abiraterone and Enzalutamide.

PMID 23934222 2013 Fanconi anemia signaling network regulates the spindle assembly checkpoint.

PMID 10994546 2000 A heterozygous frameshift mutation in the Fanconi anemia C gene in familial T-ALL and secondary malignancy.

PMID 25801821 2015 Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology.

PMID 16429406 2006 Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.

PMID 9452030 1998 Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream.

PMID 12670332 2003 Constitutional sequence variation in the Fanconi anaemia group C (FANCC) gene in childhood acute myeloid leukaemia.

PMID 20869034 2010 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.

rs104886456 in FANCC gene and Fanconi Anemia PMID 8348157 1993 A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.

PMID 10666230 2000 The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.

PMID 8081385 1994 The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population.

PMID 8639804 1996 Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity.

PMID 27133164 2016 Fanconi Anemia Proteins Function in Mitophagy and Immunity.

PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

PMID 22778927 2012 Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

PMID 23028338 2012 Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

PMID 7689011 1993 A nonsense mutation and exon skipping in the Fanconi anaemia group C gene.

PMID 8128956 1994 Mutation analysis of the Fanconi anemia gene FACC.

PMID 8103176 1993 FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.

PMID 9207444 1997 Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.

PMID 26740942 2015 Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 26990548 2016 NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

PMID 16429406 2006 Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.

rs104886456 in FANCC gene and Neoplastic Syndromes, Hereditary PMID 22701786 2012 A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.

PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 10666230 2000 The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.

PMID 15516848 2004 Fanconi anemia in Ashkenazi Jews.

PMID 8639804 1996 Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity.

PMID 8128956 1994 Mutation analysis of the Fanconi anemia gene FACC.

PMID 26778106 2016 The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.

PMID 8348157 1993 A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 22778927 2012 Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

PMID 23028338 2012 Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

PMID 27577878 2017 Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

PMID 21659346 2011 Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

PMID 7689011 1993 A nonsense mutation and exon skipping in the Fanconi anaemia group C gene.

PMID 20509860 2010 Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents.

PMID 28259476 2017 Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer.

PMID 28125078 2017 Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

PMID 17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.