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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

(Note : for Links provided by Atlas : click)
 

Identity

Atlas_Id 10081
Genes implicated inDIRC1   DIRC2   DIRC3   FHIT   RNF139  
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:
Also chromosome abnormalities may be related to inherited renal cancer.

Clinics

Note No phenotypic sign.
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

Alias FRAGILE SITE 3p14.2, INCLUDED FRA3B, INCLUDED
Location 3p14.2 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

Location 8q24.13
Note TRC8 is a breakpoint spanning gene on chromosome 8 in a constitutional familial case of a t(3;8)(p14;q24) translocation.

Location 3q21.1
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.

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.

Location 2q32.2
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
Human genetics. 2003 ; 112 (2) : 178-185.
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


Other genes implicated (Data extracted from papers in the Atlas) [ 6 ]

Genes DIRC1 SLC49A4 DIRC3 HSPBAP1 RHOBTB3 RNF139


External links

OMIM144700
OrphanetClear cell papillary renal cell carcinoma
ICD-10C64  
Other databaseClear cell renal cell carcinoma (GARD)
Genes implicated inDIRC1   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
Genes implicated inDIRC2   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
Genes implicated inDIRC3   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
Genes implicated inFHIT   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
Genes implicated inRNF139   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  

REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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indexed on : Fri Apr 30 15:04:17 CEST 2021


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