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Proc Natl Acad Sci U S A. 1988 Mar; 85(5): 1571–1575.
PMCID: PMC279815

Consistent chromosome 3p deletion and loss of heterozygosity in renal cell carcinoma.


Renal cell carcinoma (RCC) and normal kidney tissues have been examined from 34 patients with sporadic, nonhereditary RCC. Eighteen of the 21 cytogenetically examined tumors (86%) had a detectable anomaly of chromosome arm 3p distal to band 3p11.2-p13, manifested as a deletion, combined with the nonreciprocal translocation of a segment from another chromosome or monosomy 3. Restriction-fragment-length polymorphism analysis showed loss of D1S1 heterozygosity in 16 of the 21 cases (76%). D3S2 heterozygosity was lost in 2 of 11 cases (18%). The variability of the breakpoint between 3p11.2 and 3p13 and the absence of a consistently translocated segment from another chromosome suggests a genetic-loss mechanism, while the activation of a dominant oncogene appears less likely. Together with the previously demonstrated involvement of the 3p14.2 region in a familial case, these findings suggest that RCCs may arise by the deletion of a "recessive cancer gene," as do retinoblastoma and Wilms tumor. The relevant locus must be located on the telomeric side of the D1S1 locus on the short arm of chromosome 3.

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Selected References

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  • Cohen AJ, Li FP, Berg S, Marchetto DJ, Tsai S, Jacobs SC, Brown RS. Hereditary renal-cell carcinoma associated with a chromosomal translocation. N Engl J Med. 1979 Sep 13;301(11):592–595. [PubMed]
  • Pathak S, Strong LC, Ferrell RE, Trindade A. Familial renal cell carcinoma with a 3;11 chromosome translocation limited to tumor cells. Science. 1982 Sep 3;217(4563):939–941. [PubMed]
  • Li FP, Marchetto DJ, Brown RS. Familial renal carcinoma. Cancer Genet Cytogenet. 1982 Nov;7(3):271–275. [PubMed]
  • Wang N, Perkins KL. Involvement of band 3p14 in t(3;8) hereditary renal carcinoma. Cancer Genet Cytogenet. 1984 Apr;11(4):479–481. [PubMed]
  • Yoshida MA, Ohyashiki K, Ochi H, Gibas Z, Pontes JE, Prout GR, Jr, Huben R, Sandberg AA. Cytogenetic studies of tumor tissue from patients with nonfamilial renal cell carcinoma. Cancer Res. 1986 Apr;46(4 Pt 2):2139–2147. [PubMed]
  • Carroll PR, Murty VV, Reuter V, Jhanwar S, Fair WR, Whitmore WF, Chaganti RS. Abnormalities at chromosome region 3p12-14 characterize clear cell renal carcinoma. Cancer Genet Cytogenet. 1987 Jun;26(2):253–259. [PubMed]
  • Kovacs G, Szücs S, De Riese W, Baumgärtel H. Specific chromosome aberration in human renal cell carcinoma. Int J Cancer. 1987 Aug 15;40(2):171–178. [PubMed]
  • Groffen J, Stephenson JR, Heisterkamp N, de Klein A, Bartram CR, Grosveld G. Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22. Cell. 1984 Jan;36(1):93–99. [PubMed]
  • Knudson AG., Jr Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971 Apr;68(4):820–823. [PMC free article] [PubMed]
  • Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallie BL, Murphree AL, Strong LC, White RL. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature. 305(5937):779–784. [PubMed]
  • Koufos A, Hansen MF, Lampkin BC, Workman ML, Copeland NG, Jenkins NA, Cavenee WK. Loss of alleles at loci on human chromosome 11 during genesis of Wilms' tumour. Nature. 1984 May 10;309(5964):170–172. [PubMed]
  • Orkin SH, Goldman DS, Sallan SE. Development of homozygosity for chromosome 11p markers in Wilms' tumour. Nature. 1984 May 10;309(5964):172–174. [PubMed]
  • Reeve AE, Housiaux PJ, Gardner RJ, Chewings WE, Grindley RM, Millow LJ. Loss of a Harvey ras allele in sporadic Wilms' tumour. Nature. 1984 May 10;309(5964):174–176. [PubMed]
  • Fearon ER, Vogelstein B, Feinberg AP. Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumours. Nature. 1984 May 10;309(5964):176–178. [PubMed]
  • Sümegi J, Hedberg T, Björkholm M, Godal T, Mellstedt H, Nilsson MG, Perlman C, Klein G. Amplification of the c-myc oncogene in human plasma-cell leukemia. Int J Cancer. 1985 Sep 15;36(3):367–371. [PubMed]
  • Sümegi J, Spira J, Bazin H, Szpirer J, Levan G, Klein G. Rat c-myc oncogene is located on chromosome 7 and rearranges in immunocytomas with t(6:7) chromosomal translocation. Nature. 1983 Dec 1;306(5942):497–498. [PubMed]
  • Harris P, Morton CC, Guglielmi P, Li F, Kelly K, Latt SA. Mapping by chromosome sorting of several gene probes, including c-myc, to the derivative chromosomes of a 3;8 translocation associated with familial renal cancer. Cytometry. 1986 Nov;7(6):589–594. [PubMed]
  • Harper ME, Saunders GF. Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization. Chromosoma. 1981;83(3):431–439. [PubMed]
  • Carritt B, Welch HM, Parry-Jones NJ. Sequences homologous to the human D1S1 locus present on human chromosome 3. Am J Hum Genet. 1986 Apr;38(4):428–436. [PMC free article] [PubMed]
  • Kidd KK, Gusella J. Report of the Committee on the Genetic Constitution of Chromosomes 3 and 4. Cytogenet Cell Genet. 1985;40(1-4):107–127. [PubMed]
  • Barker D, Schafer M, White R. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell. 1984 Jan;36(1):131–138. [PubMed]
  • Gerber MJ, Miller YE, Drabkin HA, Scoggin CH. Regional assignment of the polymorphic probe D3S3 to 3p14 by molecular hybridization. Cytogenet Cell Genet. 1986;42(1-2):72–74. [PubMed]

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