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Fanconi anemia

Written2016-04Filippo Rosselli
UMR8200 CNRS, Gustave Roussy Institute, Université Paris-Saclay - Université Paris-Sud;
This article is an update of :
2002-06Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
1998-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Abstract Fanconi anemia (FA) is a rare human recessive syndrome featuring bone marrow failure, myelodysplasia, and predisposition to cancer as well as chromosome fragility and hypersensitivity to DNA interstrands crosslinking agents. FA was described in 1927 by the Swiss pediatrician Giuseppe Fanconi, which reported a first family with three affected sibling presenting developmental defects and anemia.
FA cells are hypersensitive, at both cellular and chromosomal levels, to the exposure to DNA interstrands crosslinking agents, like mitomycin C, diepoxybutane, cis-platinum or photoactivated psoralen. The chromosomal response to DNA interstrands crosslinks (ICLs)-inducing agents is so typical that the observation of both the induced frequency of chromosome aberrations and their type, i.e. tri- and quadri-radials, is considered the best diagnostic criteria for FA. Indeed, looking simply at the clinical hallmarks of the patients, it is difficult to distinguish FA patients from several other bone marrow failure syndromes. Alternatively, since the FA cells need more time to pass through both G2 and S phases than normal cell, the analysis by flow cytometry of the over accumulation of the FA cells in G2 following exposure to ICL-inducing agents could be a useful approach for diagnosis. More recently, molecular and biochemical approaches looking at gene mutations, proteins expression and/or post-translational modifications are used to validate cytogenetics conclusions.
To date 19 different genes (FANC) have been associated to FA. The FANC proteins constitute a pathway which essential function is to deal with replication stress assuring the transmission of a stable genome from one cell to the daughters and acting both during replication, to cope with stalled replication forks, but also in G2 and M phases, to resolve un-replicated or not fully replicated regions before telophase.
For review: Duxin and Walter, 2015; Bogliolo and Surralles, 2015; Walden and Deans, 2014; Soulier 2011; Lobitz and Velleuer, 2006.

Keyword Fanconi anemia, DNA repair, Replication, Acute Myeloid Leukemia, Bone Marrow Failure.

(Note : for Links provided by Atlas : click)


Other namesFanconi pancytopenia
Atlas_Id 10001
Genes implicated inFANCA   FANCB   FANCC   BRCA2   FANCD2   FANCE   FANCF   FANCG   FANCI   BACH1   FANCL   FANCM   PALB2   RAD51C   SLX4   ERCC4   RAD51   BRCA1   UBE2T  
Note : Nineteen genes currently involved (for which bi-allelic inactivating mutations are retrieved in affected individual): FANCA, FANCB, FANCC, BRCA2 (FANCD1), FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, BRIP1 (BACH1/FANCJ) FANCL, FANCM, PALB2 (FANCN), RAD51C (FANCO), SLX4 (FANCP), ERCC4 (FANCQ/XPF) RAD51 (FANCR), BRCA1 (FANCS), UBE2T (FANCT)
Inheritance Autosomal recessive and X-linked (for FANCB); the estimated prevalence is 1 to 5 cases for million people; with a heterozygous carrier frequency of around 1/300 people.


Phenotype and clinics
  • Growth retardation (70% of cases).
  • Skin abnormalities: hyper- and hypo-pigmentation, café au lait spots (80% of cases).
  • Skeletal malformations (60% of cases): in particular absence or hypoplasia of radius and/or thumb.
  • Subtle immunological defects.
  • Progressive bone marrow failure (BMF), leading to anemia, thrombocytopenia or pancytopenia. Mean age of onset of anemia: 8 yrs; diagnosis made before onset of haematologic manifestations in only 30%.
  • Other clinical signs: Microophtalmia, Deafness, Kidney and Urinary abnormalities, Hypogonadism, Hearth defects, Microcephaly, Diabetes (less than 25% of patients).
  • Around 25% of patients present few or no physical/developmental abnormalities.
  • Differential diagnosis Diagnosis is based on standard, ie on Giemsa stained metaphases, cytogenetic analysis of the level of chromosome fragility following exposure to a DNA crosslinking agent exposure. Due to the risk of mosaicism linked to the spontaneous reversion of the mutation in the highly replicative hematopoietic precursors, cytogenetic analysis must be performed on fibroblasts and not simply on lymphocytes culture stimulated in vitro. An eventual confirmation of the diagnosis could be realized at molecular level thanks to the identification of the complementation group and, eventually, of the mutation(s) in the involved gene.
    Neoplastic risk
  • Patients develop a myelodisplasia (MDS) that can evolve into
    acute myeloid leukemia (AML) in around 15% of cases; i.e. a 15000 fold increased risk. It has been assumed that 'it is reasonable to regard the Fanconi anemia genotype as "preleukemia"'; mean age at diagnosis: 13-15 yrs
  • Head and neck cancers ,
  • Hepatocarcinoma as a consequence of androgen therapy.
  • Treatment Androgens and steroids to improve hematopoietic function. Bone marrow transplantation to palliate the BMF and in the case of AML.
    Evolution The BMF, which is the central characteristic of the syndrome, is progressive and culminate in pancytopenia and, in a fraction of the cases, in AML.
    Prognosis The clinical presentation of the FA is extremely heterogenous. It is generally admitted that BMF appears at around 7 years. Most patients die from marrow aplasia (haemorrhage, sepsis), and others from malignancies; MDS and AML in FA bear a very poor prognosis (median survival of about 6 mths); survival is also poor in the case of a squamous cell carcinoma.
    Significant phenotypic differences were found between the various complementation groups. In FA group A, patients homozygous for null mutations had an earlier onset of anemia and a higher incidence of leukemia than those with mutations producing an altered protein. FA group G patients had more severe cytopenia and a higher incidence of leukemia. FA group C patients had less somatic abnormalities, which, in reverse, were more frequent in the rare groups FA-D, FA-E, and FA-F. FA group G patients patients and patients homozygous for null mutations in FANCA are high-risk groups with a poor hematologic outcome and should be considered as candidates both for frequent monitoring and early therapeutic intervention.
    There may also be a certain degree of clinical heterogeneity.according to the degree of mosaicism. Therefore, clinical manifestations may be variable within a given family, according to the stage of embryonic development at which the somatic reverse mutation occurred.


    Inborn conditions Spontaneous elevated levels of chromatid and chromosome gaps and breaks, presence of abnormal figures, in particular triradials and quadriradials.
    Hypersensitivity to the clastogenic effects of DNA crosslinking agents, like mitomycin C, diepoxybutane or cis-Platin.
      IMAGE A: gaps; B: breaks; C: deletion; D: triradials; E: quadriradials; F: complex figures; G: dicentric. Giemsa staining - Jean Loup Huret.
    Cytogenetics of cancer Clonal abnormalities were reported in MDS and AML: in particular: -5/del(5q) and -7/del(7q) .

    Other findings

  • slowing of the cell cycle (G2/M transition, with accumulating of cells in G2)
  • impaired oxygen metabolism
  • defective P53 induction
  • Genes involved and Proteins

    Note To date 19 complementation groups have been described (A to T). FANCA represents 60 to 70% of the patients, FANCC and FANCG (10 to 15% each), meaning that all the other are extremely rare (less than 3% each). In response to DNA damage and together with several other partners involved in DNA damage signaling and cell cycle checkpoint activation, the FANC proteins work long a linear pathway to cope with the replication stress induced by the presence of DNA lesions and help in the replication rescue by homologous recombination based mechanism. Briefly, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL (with other companion proteins) assemble on FANCM and meet UBE2T to monoubiquitinate FANCD2 and FANCI. Following their monoubiquitination, the FANCD2/FANCI heterodimer assembles into subnuclear foci where in a yet undetermined manner participates to and/or coordinates the elimination of the lesions and the restart of the stalled replication fork thanks to the action of the other component of the FANC pathway, which include structure specific endonucleases (XPF, SLX4) and homologous recombination proteins (RAD51, BRCA1, BRCA2, ...)
    The pathway, or some of its components, participate also to transcription regulation, epigentics, production/response to inflammatory and stress induced cytokines and interferons.
    Gene NameFANCA (Fanconi anemia, complementation group A)
    Location 16q24.3
    Note The gene spans 80kB and contains 43 exons. FANCA is the most frequently mutated among the 19 known FANC genes: it accounts for more than 60% of the FA patients worldwide. Alternative splice results in the production of several transcripts variants encoding different protein isoforms. The most representative protein is a polypeptide of 1455-amino acids weighting approximatively 163 kDa. Present in both cytoplasms and nucleus, the protein possesses a nuclear localization signal but lacks of other known regulatory motifs and any biochemical function was ascribed to it. FANCA participates to the nuclear FANCcore complex that hosts the E3 ligase (FANCL) activity that, in collaboration with the E2 UBE2T, monoubiquitinates FANCD2 and FANCI in response to DNA damage. FANCA interacts directly with FANCG and FAAP20.

    Gene NameFANCB (Fanconi anemia complementation group B)
    Alias FAAP95
    Location Xp22.2
    Note FANCB is constituted by 10 exons spanning 77kB. Alternative splicing results in two transcript variants encoding a same protein of 859-amino acids with a MW of 98 kDa. Any biochemical function was reported for the protein. FANCB aggregates with FANCL and FAAP100 in a sub-complex that participates to the FANCcore complex to mediate FANCD2 and FANCI monoubiquitination in response to DNA damage. FANCB stabilizes FANCL and needs FANCA to translocate into thAe nucleus. Mutations in FANCB are associated to both Fanconi anemia and X linked VACTERL with hydrocephalus syndromes.

    Gene NameFANCC (Fanconi anaemia complementation group C)
    Location 9q22.32
    Note FANCC has been the first FANC gene to be cloned. It contains 14 exons and codes an ORF of 1677 bp which translation results in a protein of 558aa, weighting about 63kDa. The protein, present in both cytoplasm and nucleus, interacts with FANCE and FANCF, a subgroup participating to the FANCcore complex. Any direct biochemical function was reported for FANCC.

    Gene NameBRCA2 (breast cancer 2, early onset)
    Alias FANCD1, XRCC11
    Location 13q13.1
    Note The gene contains 27 exons, coding a mRNA which translation results in a protein of 3418aa, weighting about 385kDa. The protein is involved in the homologous recombination process. FANCD1/BRCA2 contains several repetitions of a 70 aa motif called the BRC motif that mediate RAD51 interaction. Indeed, FANCD1/BRCA2 is the cargo that target RAD51 to ssDNA stretches covered by RPA at DBS. It interacts with several proteins involved in DNA metabolism, including FANCD2, FANCN/PALB2, POLH and some components of the TREX-2 complex. FANCD1/BRCA2 inherited mutations are associated to the recessive syndrome Fanconi anemia while carriers of one inactivated allele are at risk for breast and ovarian cancer predisposition following the somatic loss-of-function of the wild-type allele.

    Gene NameFANCD2 (Fanconi anemia, complementation group D2)
    Location 3p25.3
    Note The gene contains 44 exons. FANCD2 encodes a 1,451-amino acid nuclear protein. As several other FANC proteins, FANCD2 had no known functional domains. With its major partner, FANCI, FANCD2 is the target of the Ubiquitin-ligase activity of the the FANCcore complex. In presence of DNA damage or replication stress, FANCD2 is monoubiquitinated on K561 and targeted to subnuclear foci where it colocalize with several DNA repair proteins. It is phosphorylated by both ATM and ATR. The protein participate to both replication safeguard and chromosome fragile sites integrity maintenance. Interacts directly or indirectly with several proteins, including, FANCI, FANCE. USP1, MEN1, BRCA1, BRCA2, phosphorylated FANCG, FAN1 and DCLRE1B/Apollo.

    Gene NameFANCE (Fanconi anemia, complementation group E)
    Location 6p21.31
    Note The gene contains 10 exons. FANCE protein is constituted by 536 amino-acids weighting approximatively 59kDa. It contains two Nuclear Localization Signal (NLS). FANCE forms with FANCC and FANCF a FANCcore complex sub-complex. It is required for FANCC nuclear accumulation and connects the FANCcore complex to FANCD2 allowing the FANCL/UBE2T-mediated FANCD2 monoubiquitination. It is phosphorylated by CHK1 in response to DNA damage. As several other FANC proteins, FANCE had no known biochemical functions.

    Gene NameFANCF (Fanconi anemia, complementation group F)
    Location 11p14.3
    Note FANCF is an intron-less gene. The protein, long of 374aa, weights 42kDa. FANCF is predominantly nuclear, where it interacts with FANCE and FANCC, a subgroup participating to the FANCcore complex. As a FANCcore complex participant, FANCF is involved in FANCD2 and FANCI monoubiquitination. FANCF had no known biochemical functions.

    Gene NameFANCG (Fanconi anemia, complementation group G)
    Alias XRCC9
    Location 9p13.3
    Note The gene codes at least two mRNA of 2.2 and 2.5 kb, which translation results in a major proteins of 622 aa, weighting 68kDa. It participates to the FANCcore complex and its phosphorylation on serine 7 is mandatory for its function inside the complex. Nevertheless, as for several other FANC proteins any biochemical function has been attributed to FANCG. As for the other components of the FANCcore complex, its presence inside the complex is mandatory for FANCD2 and FANCI monoubiquitination and targeting to subnuclear foci.

    Gene NameFANCI (Fanconi anemia complementation group I)
    Location 15q26.1
    Note The gene contains 38 exons. The FANCI protein is long of 1328aa, weights 50kDa and contains 3 NLS. FANCI is phosphorylated by ATM/ATR and is monoubiquitinated by the FANCcore complex on the lys523. It is considered as a functional homolog of FANCD2. The two proteins forms a heterodimer that, following their DNA damage- or replication stress -induced monoubiquitination, relocalizes to subnuclear foci to optimally restore DNA and rescue replication in a yet undetermined manner.

    Gene NameBACH1 (BTB domain and CNC homolog 1)
    Location 21q21.3
    Note The gene encodes a protein of 1249aa with a molecular mass de 141kDa. Memeber of the RecQ DEAH helicase family, FANCJ interact with BRCA1 participating to the DNA double-strand breaks repair by homologous recombination. Germline mutations in FANCJ are associated to breast and ovarian cancer susceptibility. Biallelic inheritance results in a Fanconi anemia-like phenotype.

    Gene NameBRIP1 (BRCA1 interacting protein C-terminal helicase 1)
    Alias FANCJ
    Location 17q23.2
    Note The gene encodes a protein of 1249aa with a molecular mass de 141kDa. Member of the RecQ DEAH helicase family, FANCJ interact with BRCA1 participating to the DNA double-strand breaks repair by homologous recombination. Germline mutations in FANCJ are associated to breast and ovarian cancer susceptibility. Biallelic inheritance results in a Fanconi anemia-like phenotype

    Gene NameFANCL (Fanconi anemia complementation group L)
    Alias PHF9, FAAP43
    Location 2p16.1
    Note It codes a proteins of 373 aa, weighting 43 kDa, containing 3 putative WD40 motifs and a PHD zync finger motif. The protein could be retrieved in both cytoplasm and nucleus. FANCL is the catalytic subunit of the FANCore complex. It has the E3 ubiquitin ligase activity necessary for FANCD2 and FANCI monoubiquitination. It mediate ubiquitin release from UBE2T and UBE2W.

    Gene NameFANCM (Fanconi anemia complementation group M)
    Alias FAAP250
    Location 14q21.2
    Note It code for a protein of 2048aa. Contains an N-terminal helicase domain ans possess the ability to translocate on duplex DNA. It belongs to the DEAD box helicase family. It is hyperphosphorylated by ATR in response of DNA damage FANCM is thought be the transporter of the FANCcore complex along the DNA and, so, it participates de facto to both FANCD2 and FANCI optimal monoubiquitination.

    Gene NamePALB2 (partner and localizer of BRCA2)
    Alias FANCN
    Location 16p12.2
    Note FANCN contains 13 exons and encodes for a protein of 1186 aa having a molecular mass of about 130kDa. The protein participates to homologous recombination in collaboration with its major partner BRCA2. It interacts also with BRCA1, RAD51, RAD51C and POLH. Monoallelic PALB2 mutations confer predisposition to breast and pancreatic cancers. hereditary bi-allelic mutations in FANCN result in Fanconi anemia.

    Gene NameRAD51C (RAD51 paralog C)
    Alias FANCO
    Location 17q22
    Note Member of the RAD51 gene family, involved in homologous recombination repair of damaged DNA and in meiotic recombination. RAD51C encodes a major 1.3 kB mRNA translated in a protein of 376 aa, weighting approximatively 45kDa. It interact with several DNA repair proteins, including RAD51 and PALB2. It participates to several complexes with RAD51B, RAD51D and XRCC2 or with XRCC3. The monoallelic inheritance of RAD51C is associated to breast and ovarian cancers predispostion. The biallelic, recessive, inheritance of RAD51C mutations result in a Fanconi anemia-like syndrome.

    Gene NameSLX4 (SLX4 structure-specific endonuclease subunit)
    Alias FANCP
    Location 16p13.3
    Note The protein is constituted by 1834 aa which weights about 200kDa. Component of the SLX1-SLX4 structure-specific endonuclease, it is the docking platform of a complex assembling two other structure specific enducleases: XPF-ERCC1 and MUS81-EME1. SLX4 is also associated to MSH2/MSH3, the telomere binding complex TRF2-RAP1 and the kinase PLK1. FANCP is required DNA repair, chromosome fragile sites maintenance and for replication fork failure rescue.

    Gene NameERCC4 (xeroderma pigmentosum, complementation group F)
    Alias FANCQ, XPF
    Location 16p13.12
    Note The gene contains 11 exons spanning more than 28 kb. The gene encodes 3 mRNA of 2.4, 3.8 and 7 kb, which translation results in a protein of 905 aa, having a mass of about 110 kDa. The protein interacts primarily with with ERCC1 making up the ERCC1-XPF-5' structure specific endonuclease. The protein also interacst with FANCP/SLX4. Biallelic inactivating mutation in this gene have been associated to Fanconi anemia, xeroderma pigmentosum, cockayne syndrome and XFE progeroid syndrome.

    Gene NameRAD51 (RAD51 recombinase)
    Alias FANCR, RAD51A
    Location 15q15.1
    Note Belonging to the RAD51 family, this gene is encodes several transcript variant, the major being a 1.8kb mRNA which translation results in a protein of 339aa weighting 37kDa which plays a central role in homologous recobination repair and in meiotic recombination. It interacts with BRCA1, BRCA2, RPA, and several other DNA repair proteins. The only Fanconi anemia patient associated to RAD51 mutation bears a de novo mutation which created a dominant-negative variant. Mutations in RAD51 have been also associated to breast cancer suceptibility and to the congenital Mirror Movements 2 syndrome.

    Gene NameBRCA1 (breast cancer 1, early onset)
    Alias FANCS
    Location 17q21.31

    Gene NameUBE2T (ubiquitin conjugating enzyme E2 T)
    Alias FANCT
    Location 1q32.1
    Note The gene contains 7 exons. Two transcript variants encodes different protein isoforms, the major is a protein of 197 amino acids weighting approximatively 22kDa. UBE2T is an E2-conjugating enzyme that collaborates with FANCL, the E3 ubiquitin ligase hosted by the FANC core complex, for the monoubiquitination of FANCD2 and FANCI. It interact with FANCL and BRCA1.


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    This paper should be referenced as such :
    Filippo Rosselli
    Fanconi anemia
    Atlas Genet Cytogenet Oncol Haematol. 2017;21(7):272-278.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :
    History of this paper:
    Huret, JL. Fanconi anaemia. Atlas Genet Cytogenet Oncol Haematol. 1998;2(2):68-69.
    Huret, JL. Fanconi anaemia. Atlas Genet Cytogenet Oncol Haematol. 2002;6(4):311-313.

    Other genes implicated (Data extracted from papers in the Atlas) [ 16 ]


    External links

    OrphanetFanconi anemia
    Other databaseFanconi syndrome (GARD)
    AssociationFanconi's Anemia International Registry
    AssociationAssociation Francaise de la Maladie de Fanconi
    RegistryInternational Fanconi Anemia Registry (IFAR)
    Genes implicated inFANCA   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inFANCB   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inFANCC   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inBRCA2   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inFANCD2   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inFANCE   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inFANCF   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inFANCG   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inFANCI   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inBACH1   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inFANCL   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inFANCM   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inPALB2   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inRAD51C   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inSLX4   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inERCC4   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inRAD51   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inBRCA1   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inUBE2T   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  

    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed

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