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    FANCB FA complementation group B [ Homo sapiens (human) ]

    Gene ID: 2187, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    [Association of CDH1, FANCB and APC Gene Polymorphisms with Lung Cancer Susceptibility in Chinese Population].

    [Association of CDH1, FANCB and APC Gene Polymorphisms 
with Lung Cancer Susceptibility in Chinese Population].
    Su L, Huang H, Gao M, Li Y, Shi R, Chen C, Li X, Zhu G, Liu H, Chen J., Free PMC Article

    10/8/2022
    We identified a 9154 bp intragenic duplication in FANCB, covering the first coding exon 3 and the flanking regions. The duplicated allele gives rise to an aberrant transcript containing exon 3 duplication, predicted to introduce a stop codon in FANCB protein (p.A319*).

    Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
    Asur RS, Kimble DC, Lach FP, Jung M, Donovan FX, Kamat A, Noonan RJ, Thomas JW, Park M, Chines P, Vlachos A, Auerbach AD, Smogorzewska A, Chandrasekharappa SC., Free PMC Article

    09/22/2018
    Four single nucleotide polymorphisms were identified, three of which were located in untranslated regions of Fanconi anemia group B protein (FANCB) and predicted to be associated with normal function.

    Mutational and Functional Analysis of FANCB as a Candidate Gene for Sporadic Head and Neck Squamous Cell Carcinomas.
    Glaas MF, Wiek C, Wolter LM, Roellecke K, Balz V, Okpanyi V, Wagenmann M, Hoffmann TK, Grässlin R, Plettenberg C, Schipper J, Hanenberg H, Scheckenbach K.

    03/17/2018
    Loss-of-function FANCB mutations result in a recognizable, multiple malformation phenotype in hemizygous males for which we propose clinical criteria to aid diagnosis.

    X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.
    McCauley J, Masand N, McGowan R, Rajagopalan S, Hunter A, Michaud JL, Gibson K, Robertson J, Vaz F, Abbs S, Holden ST.

    01/21/2012
    Inactivation of FancB may play a role in the pathogenesis of sporadic HNSCC.

    Inactivation of the tumor suppressor genes causing the hereditary syndromes predisposing to head and neck cancer via promoter hypermethylation in sporadic head and neck cancers.
    Smith IM, Mithani SK, Mydlarz WK, Chang SS, Califano JA., Free PMC Article

    09/20/2010
    Elevated serum FA-2 was associated with bony metastases from breast cancer.

    Bony metastases from breast cancer - a study of foetal antigen 2 as a blood tumour marker.
    Cheung KL, Iles RK, Robertson JF., Free PMC Article

    08/9/2010
    Observational study of gene-disease association. (HuGE Navigator)

    The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features.
    Barroso E, Pita G, Arias JI, Menendez P, Zamora P, Blanco M, Benitez J, Ribas G.

    08/12/2009
    Our results rule out a major contribution of FANCB to hereditary breast cancer.

    Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.
    García MJ, Fernández V, Osorio A, Barroso A, Llort G, Lázaro C, Blanco I, Caldés T, de la Hoya M, Ramón Y Cajal T, Alonso C, Tejada MI, San Román C, Robles-Díaz L, Urioste M, Benítez J, García MJ, Fernández V, Osorio A, Barroso A, Llort G, Lázaro C, Blanco I, Caldés T, de la Hoya M, Ramón Y Cajal T, Alonso C, Tejada MI, San Román C, Robles-Díaz L, Urioste M, Benítez J.

    01/21/2010
    Observational study of genotype prevalence. (HuGE Navigator)

    Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.
    García MJ, Fernández V, Osorio A, Barroso A, Llort G, Lázaro C, Blanco I, Caldés T, de la Hoya M, Ramón Y Cajal T, Alonso C, Tejada MI, San Román C, Robles-Díaz L, Urioste M, Benítez J, García MJ, Fernández V, Osorio A, Barroso A, Llort G, Lázaro C, Blanco I, Caldés T, de la Hoya M, Ramón Y Cajal T, Alonso C, Tejada MI, San Román C, Robles-Díaz L, Urioste M, Benítez J.

    04/3/2008
    Mus81 and FANCB have different roles in repair of DNA damage during replication in human cells

    Human Mus81 and FANCB independently contribute to repair of DNA damage during replication.
    Nomura Y, Adachi N, Koyama H.

    01/21/2010
    the protein defective in individuals with Fanconi anemia belonging to complementation group B is an essential component of the nuclear protein 'core complex' responsible for monoubiquitination of FANCD2

    X-linked inheritance of Fanconi anemia complementation group B.
    Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, Rooimans MA, Bier P, Hoatlin M, Pals G, de Winter JP, Wang W, Joenje H.

    01/21/2010
    summary of recent advances in the Fanconi anemia-BRCA network with emphasis on the new discovery of FAAP95 as the true FANCB gene [review]

    New advances in the DNA damage response network of Fanconi anemia and BRCA proteins. FAAP95 replaces BRCA2 as the true FANCB protein.
    Fei P, Yin J, Wang W.

    01/21/2010
    Mutations in FANCB are a cause of X linked VACTERL-H syndrome.

    Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.
    Holden ST, Cox JJ, Kesterton I, Thomas NS, Carr C, Woods CG., Free PMC Article

    01/21/2010
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