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Human Molecular Genetics, 2002, Vol. 11, No. 20 2489-2498
© 2002 Oxford University Press

Understanding familial and non-familial renal cell cancer

Daniëlle Bodmer1, Wilhelmina van den Hurk1, Jan J. M. van Groningen1, Marc J. Eleveld1, Gerard J. M. Martens2, Marian A. J. Weterman1,{dagger} and Ad Geurts van Kessel1,*

1Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands and 2Department of Animal Physiology, Nijmegen Center for Molecular Life Sciences, Nijmegen, The Netherlands

Received July 1, 2002; Accepted July 5, 2002

Molecular genetic analysis of familial and non-familial cases of conventional renal cell carcinoma (RCC) revealed a critical role(s) for multiple genes on human chromosome 3. For some of these genes, e.g. VHL, such a role has been firmly established, whereas for others, definite confirmation is still pending. Additionally, a novel role for constitutional chromosome 3 translocations as risk factors for conventional RCC development is rapidly emerging. Also, several candidate loci have been mapped to other chromosomes in both familial and non-familial RCCs of distinct histologic subtypes. The MET gene on chromosome 7, for example, was found to be involved in both forms of papillary RCC. A PRCC–TFE3 fusion gene is typically encountered in t(X;1)-positive non-familial papillary RCCs and results in abrogation of the cell cycle mitotic spindle checkpoint in a dominant-negative fashion, thus leading to RCC. Together, these data turn human RCC into a model system in which different aspects of both familial and non-familial syndromes may act as novel paradigms for cancer development.

* To whom correspondence should be addressed at: Department of Human Genetics, University Medical Center Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. Tel: +31 243614107; Fax: +31 243540488; Email: a.geurtsvankessel{at}antrg.azn.nl

{dagger} Present address: Department of Pathology, Academic Medical Center, Amsterdam, The Netherlands.


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