title: Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22.
abstract: To investigate the role of tumour-suppressor genes on the short arm of chromosome 3 in the mechanism of tumorigenesis in non-familial renal cell carcinoma, we analysed 55 paired blood-tumour DNA samples for allele loss on chromosome 3p and in the region of known or putative tumour-suppressor genes on chromosomes 5, 11, 17 and 22. Sixty-four per cent (35/55) of informative tumours showed loss of heterozygosity (LOH) of at least one locus on the short arm of chromosome 3, compared with only 13% at the p53 tumour-suppressor gene and 6% at 17q21. LOH at chromosome 5q21 and 22q was uncommon (2-3%). Detailed analysis of the regions of LOH on chromosome 3p suggested that, in addition to the VHL gene in chromosome 3p25-p26, mutations in one or more tumour-suppressor genes in chromosome 3p13-p24 may be involved in the pathogenesis of sporadic renal cell carcinoma (RCC). We also confirmed previous suggestions that chromosome 3p allele loss is not a feature of papillary RCC (P < 0.05).
authors.affiliation: Department of Pathology, Cambridge University, UK.
authors.forename: K
authors.initials: K
authors.lastname: Foster
authors.forename: P A
authors.initials: PA
authors.lastname: Crossey
authors.forename: P
authors.initials: P
authors.lastname: Cairns
authors.forename: J W
authors.initials: JW
authors.lastname: Hetherington
authors.forename: F M
authors.initials: FM
authors.lastname: Richards
authors.forename: M H
authors.initials: MH
authors.lastname: Jones
authors.forename: E
authors.initials: E
authors.lastname: Bentley
authors.forename: N A
authors.initials: NA
authors.lastname: Affara
authors.forename: M A
authors.initials: MA
authors.lastname: Ferguson-Smith
authors.forename: E R
authors.initials: ER
authors.lastname: Maher
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D002893:Chromosomes, Human, Pair 3; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006579:Heterozygote; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D008297:Male; D008875:Middle Aged