PMID: 11912179Mar 26, 2002Paper

Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21)

Human Molecular Genetics
Danielle BodmerAd Geurts van Kessel

Abstract

Previously, we described a family with a significantly increased predisposition for renal cell cancer co-segregating with a t(2;3)(q35;q21) chromosomal translocation. Several primary tumors of the clear cell type from different family members were analyzed at a molecular level. Loss of the derivative chromosome 3 was consistently found. In addition, different somatic Von Hippel Lindau (VHL) gene mutations were observed in most of the tumors analyzed, even within the same patient. Based on these results a multistep tumorigenesis model was proposed in which (non-disjunctional) loss of the derivative chromosome 3 represents an early event and somatic mutation of the VHL gene represents a late event related to tumor progression. More recently, however, we noted that these two anomalies were absent in at least one early-stage tumor sample that we tested. Similar results were obtained in another family with renal cell cancer and t(3;6)(q12;q15), thus suggesting that another genetic event may precede these two oncogenetic steps. We speculate that deregulation of a gene(s) located at or near the translocation breakpoint may act as such. In order to identify such genes, a detailed physical map encompassing the 3q21 breakpoint region was...Continue Reading

Citations

Sep 9, 2010·Molecular and Cellular Biology·Simon P DuffyChetankumar S Tailor
Jan 30, 2008·Molecular and Cellular Biology·Yong-Sik KimAnton M Jetten
Dec 3, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Anna Materna-KirylukAnna Latos-Bielenska
Mar 20, 2013·Molecular Aspects of Medicine·Anwar A Khan, John G Quigley
Dec 8, 2009·Cancer Genetics and Cytogenetics·Roland P KuiperAd Geurts van Kessel
Nov 1, 2008·Genes, Chromosomes & Cancer·Jennifer L FreemanCharles Lee
Oct 15, 2009·Genes, Chromosomes & Cancer·Emma R WoodwardEamonn R Maher
Jan 6, 2007·Genes, Chromosomes & Cancer·Rebecca E FosterEamonn R Maher
May 4, 2004·Nature Reviews. Cancer·Christian P Pavlovich, Laura S Schmidt
Feb 18, 2014·British Journal of Pharmacology·Stephen P H AlexanderUNKNOWN CGTP Collaborators
Oct 16, 2003·Current Opinion in Urology·Paola Dal Cin
Apr 14, 2019·Cellular and Molecular Life Sciences : CMLS·Jozef Nahalka
Dec 18, 2020·Frontiers in Genetics·Marina AznaourovaLeon N Schulte

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