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Familial clear cell renal cancer

Written2003-10Anita Bonné, Danielle Bodmer, Marc Eleveld, Eric Schoenmakers, Ad Geurts van Kessel
Department of Human Genetics (417), P.O. Box 9101, 6500 HB Nijmegen, The Netherlands

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Identity

Atlas_Id 10081
Genes implicated inDIRC1  DIRC2  DIRC3  FHIT  RNF139  
Note Renal cell carcinomas (RCC) represent 85% of all primary renal tumors. In general, RCCs are sporadic tumors but cases of familial RCC have also been reported. If detected early and without metastases, the disease can be cured surgically with conservation of renal function. Both familial and sporadic cases have in common the presence of abnormalities involving chromosome 3, suggesting a primary role for this chromosome in RCC causation, particularly the clear cell type. An early gene rearrangement due to translocation may be a primary event. Loss of 3p and somatic mutation(s) in a tumor-surpressor-gene(s) on 3p (e.g.VHL) may be recurring events related to tumor progression
Inheritance The inherited form of renal cancer is characterized by :
- the tumor is found at an early age compared to sporadic tumors (see below)
- the tumors are found frequently bilateral
- multiple occurrence.
Other (well known) classes of inherited renal cell carcinomas are:
  • the Von Hippel-Lindau syndrome, and
  • the Lynch syndrome II.
    Also chromosome abnormalities may be related to inherited renal cancer.
  • Clinics

    Note No phenotypic sign.
    Neoplastic risk Multiple and/or bilateral nonpapillary renal cell carcinomas, with median age 45 yrs at diagnosis (range 18-79 yrs, most cases being between 35 and 55 yrs old).
    Treatment If the tumor is detected at an early stage the tumor can be surgical removed, without the lost of the renal function.
    Prognosis Depends on the stage of the tumor at the time of detection.

    Cytogenetics

    Note Clear-cell renal cell carcinomas are associated with chromosome 3 translocations and deletions of 3p.

    Genes involved and Proteins

    Gene NameFHIT
    Alias AP3A HYDROLASE FRAGILE SITE 3p14.2, INCLUDED FRA3B, INCLUDED
    Location 3p14.2
    Note FHIT is a breakpoint spanning gene on chromosome 3 in a constitutional familial case of a t(3;8)(p14;q24) translocation.
    DNA/RNA
    Description 10 exons
    Protein
    Description 147 amino acids

    Gene NameRNF139
    Location 8q24
    Note TRC8 is a breakpoint spanning gene on chromosome 8 in a constitutional familial case of a t(3;8)(p14;q24) translocation.

    Gene NameDIRC2
    Location 3q21
    Note Dirc2 is a breakpointspanning gene on chromosome 3 in a constitutional familial case of a t(2;3)(q35;q21) translocation.
    DNA/RNA
    Description The gene spans 73 kb, 9 exons.
    Protein
    Description 478 amino acids
    Expression Expression in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart.
    Localisation Proximal tubular cells of the kidney.
    Function May be a transporter.

    Gene NameDIRC3
    Location 2q35
    Note Dirc3 is a breakpointspanning gene on chromosome 2 in a constitutional familial case of a t(2;3)(q35;q21) translocation.
    DNA/RNA
    Description The gene spans 3071 bp and contains 12 exons.

    Gene NameDIRC1
    Location 2q33
    Note Dirc1 is a breakpointspanning gene on chromosome 2 in a constitutional familial case of a t(2;3)(q33;q22) translocation.
    DNA/RNA
    Description DIRC1 gene contains 2 exons and spans approximately 57 kb of genomic DNA

    To be noted

    Bibliography

    Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21).
    Bodmer D, Eleveld M, Kater-Baats E, Janssen I, Janssen B, Weterman M, Schoenmakers E, Nickerson M, Linehan M, Zbar B, van Kessel AG
    Human molecular genetics. 2002 ; 11 (6) : 641-649.
    PMID 11912179
     
    Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21).
    Bodmer D, Schepens M, Eleveld MJ, Schoenmakers EF, Geurts van Kessel A
    Genes, chromosomes & cancer. 2003 ; 38 (2) : 107-116.
    PMID 12939738
     
    The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.
    Druck T, Podolski J, Byrski T, Wyrwicz L, Zajaczek S, Kata G, Borowka A, Lubinski J, Huebner K
    Journal of human genetics. 2001 ; 46 (10) : 583-589.
    PMID 11587072
     
    The TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway.
    Gemmill RM, Bemis LT, Lee JP, Sozen MA, Baron A, Zeng C, Erickson PF, Hooper JE, Drabkin HA
    Oncogene. 2002 ; 21 (22) : 3507-3516.
    PMID 12032852
     
    Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1).
    Meléndez B, Rodríguez-Perales S, Martínez-Delgado B, Otero I, Robledo M, Martínez-Ramí A, Ruiz-Llorente S, Urioste M, Cigudosa JC, Benítez J
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    PMID 12522559
     
    Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.
    Podolski J, Byrski T, Zajaczek S, Druck T, Zimonjic DB, Popescu NC, Kata G, Borowka A, Gronwald J, Lubinski J, Huebner K
    Journal of human genetics. 2001 ; 46 (12) : 685-693.
    PMID 11776380
     
    Involvement of band 3p14 in t(3;8) hereditary renal carcinoma.
    Wang N, Perkins KL
    Cancer genetics and cytogenetics. 1984 ; 11 (4) : 479-481.
    PMID 6704944
     
    A new inducible fragile site on chromosome 3(p14.2) in human lymphocytes.
    Wegner RD
    Human genetics. 1983 ; 63 (3) : 297-298.
    PMID 6852828
     

    Citation

    This paper should be referenced as such :
    Bonné, A ; Bodmer, D ; Eleveld, M ; Schoenmakers, EFPMG ; Geurts, van Kessel A
    Familial clear cell renal cancer
    Atlas Genet Cytogenet Oncol Haematol. 2004;8(1):57-58.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Tumors/FamClearCellRenalID10081.html


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