Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22

• Published in: British journal of cancer 1994-02, Vol.69 (2), p.230-234
• Main Authors: Foster, K, Crossey, PA, Cairns, P, Hetherington, JW, Richards, FM, Jones, MH, Bentley, E, Affara, NA, Ferguson-Smith, MA, Maher, ER
• Format: Article
• Language: English
• Subjects: Adult; Aged; Alleles; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer Research; Carcinoma, Renal Cell - genetics; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 22; Chromosomes, Human, Pair 3; Chromosomes, Human, Pair 5; Drug Resistance; Epidemiology; experimental-oncology; Female; Heterozygote; Humans; Kidney Neoplasms - genetics; Kidneys; Male; Medical sciences; Middle Aged; Molecular Medicine; Nephrology. Urinary tract diseases; Oncology; Tumors of the urinary system
• ISSN: 0007-0920; 1532-1827
• DOI: 10.1038/bjc.1994.44

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).