Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Confirmation of the copy number of chromosome 1 in interphase nuclei from paraffin sections of breast tumours by fluorescencein situ hybridization


Fluorescencein situ hybridization (FISH) was used to establish the copy number of chromosome 1 in a set of nine breast tumours in which the chromosome had previously been shown to have undergone a variety of rearrangements by loss of heterozygosity studies. In each case, FISH with satellite III DNA from chromosome 1q12 confirmed the results obtained by Southern hybridization. Importantly, in all five cases with rearrangements thought not to involve the centromeric region, FISH showed that the events had not disrupted the gross chromosome structure. This study highlights the potential of using the two techniques together to obtain a clearer picture of both large- and small-scale alterations to chromosomes in solid tumours.

This is a preview of subscription content, log in to check access.


  1. Burns J, Redfern DRM, Esiri MM, McGee JO. (1986) Human and viral gene detection in routine paraffin embedded tissue byin situ hybridisation with biotinylated probes: viral localisation in herpes encephalitis.J Clin Pathol 39: 1066–1073.

  2. Cooke, HJ, Hindley J (1979) Cloning of human satellite III DNA: different components are on different chromosomes.Nucleic Acids Res 6: 3177–3197.

  3. Cremer T, Tesin D, Hopman AHN, Manuelidis L. (1988) Rapid interphase and metaphase assessment of specific chromosomal changes in neuroectodermal tumor cells byin situ hybridization with chemically modified DNA probes.Exp Cell Res 176: 199–220.

  4. Cremers FPM, van de Pol TJR, Wieringa B,et al. (1988) Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.Am J Hum Genet 43: 452–461.

  5. de Wit PEJ, Hopman AHN, van Muijen GNPet al. (1992) In situ detection of supernumerary aberrations of chromosome-specific repetitive DNA targets in interphase nuclei in human melanoma cell lines and tissue sections.J Invest Dermatol 98: 450–458.

  6. Devilee P, Thierry RF, Kievits T,et al. (1988) Detection of chromosome aneuploidy in interphase nuclei from human primary breast tumors using chromosome-specific repetitive DNA probes.Cancer Res 48: 5825–5830.

  7. Dhingra K, Sahin A, Supak J, Kim SY, Hortobagyi G, Hittelman WN (1992) Chromosomein situ hybridization on formalin-fixed mammary tissue using non-isotopic, nonfluorescent probes: technical considerations and biological implications.Breast Cancer Res Treat 23: 201–210.

  8. Dutrillaux B, Gerbault-Seureau M, Zafrani B (1990) Characterization of chromosomal anomalies in human breast cancer. A comparison of 30 paradiploid cases with few chromosome changes.Cancer Genet Cytogenet 49: 203–217.

  9. Emmerich P, Jauch A, Hofman M.-C, Cremer T, Walt H (1989) Interphase cytogenetics in paraffin embedded sections from testicular germ cell tumor xenografts and in corresponding cultured cells.Lab Invest 61: 235–242.

  10. Gebhart E, Brüderlein S, Augustus Met al. (1986) Cytogenetic studies on human breast carcinomas.Breast Cancer Res Treat 8: 125–138.

  11. Gerbault-Seureau M, Vielh P, Zafrani B, Salmon R, Dutrillaux B (1987) Cytogenetic study of twelve human near-diploid breast cancers with chromosomal changes.Ann Génét 30: 138–145.

  12. Hainsworth PJ, Raphael KL, Stillwell RG, Bennett RC, Garson OM (1991) Cytogenetic features of twenty-six primary breast cancers.Cancer Genet Cytogenet 52: 205–218.

  13. Hainsworth PJ, Raphael KL, Stillwell RG, Bennett RC, Garson OM (1992) Rearrangement of chromosome 1p in breast cancer correlates with prognostic features.Br J Cancer 66: 131–135.

  14. Hopman AHN, Ramaekers FCS, Raap AKet al. (1988) In situ hybridization as a tool to study numerical chromosome aberrations in solid bladder tumors.Histochemistry 89: 307–316.

  15. Hopman AHN, van Hooren E, van de Kaa C, Voojis PGP, Ramaekers FCS (1991) Detection of numerical chromosome aberrations usingin situ hybridization in paraffin sections of routinely processed bladder cancers.Mod Pathol 4: 503–513.

  16. Kim SY, Lee JS, Ro JY, Gay ML, Hong WK, Hittelman WN (1993) Interphase cytogenetics in paraffin sections of lung tumors by non-isotopicin situ hybridization. Mapping genotype phenotype heterogeneity.Am J Pathol 142: 307–317.

  17. Kokalj-Vokac N, Alemeida A, Gerbault-Seureau M, Malfoy B, Dutrillaux B (1993) Two-color FISH characterization of i(1q) and der (1;16) in human breast cancer cells.Genes Chrom Cancer 7: 8–14.

  18. Levine AJ (1993) The tumor suppressor genes.Annu Rev Biochem 62: 623–651.

  19. Looijenga LHJ, Gillis AJM, Van Putten WLJ, Oosterhuis JW (1993)In situ numeric analysis of centromeric regions of chromosomes 1, 12, and 15 of seminomas, nonseminomatous germ cell tumors, and carcinomain situ of human testis.Lab Invest 68: 211–219.

  20. Loupart M.-L, Armour J, Walker Ret al. (1995) Allelic imbalance on chromosome 1 in human breast cancer. I. Ministellite and RFLP analysis.Genes Chrom Cancer 12: 16–23.

  21. Mitchell ELD, Santibanez-Koref MF (1990) 1p13 is the most frequently involved band in structural chromosomal rearrangements in human breast cancer.Genes Chrom Cancer 2: 278–289.

  22. Nederlof PM, van der Flier S, Raap AKet al. (1989) Detection of chromosome aberrations in interphase tumor nuclei by nonradioactive in situ hybridization.Cancer Genet Cytogenet 42: 87–98.

  23. Pinkel D, Straume T, Gray JW (1986) Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.Proc Natl Acad Sci USA 83: 2934–2938.

  24. Pringle JH, Homer CE, Warford A, Kendall CH, Lauder I (1987)In situ hybridization: alkaline phosphatase visualization of biotinylated probes in cryostat and paraffin sections.Histochem J 19: 488–496.

  25. Sandberg AA, Turc-Carel C, Gemmill RM (1988) Chromosomes in solid tumors and beyond.Cancer Res 48: 1049–1059.

  26. Senior PV, Critchley DR, Beck F, Walker RA, Varley JM (1988) The localization of laminin mRNA and protein in the postimplantation embryo and placenta of the mouse: anin situ hybridization and immunocytochemical study.Development 104: 431–446.

  27. Steiner MG, Harlow SP, Colombo E, Bauer KD (1993) Chromosomes 8, 12 and 17 copy number of Astler-Coller stage C colon cancer in relation to proliferative activity and DNA ploidy.Cancer Res 53: 681–686.

  28. van Dekken H, Kerstens HMJ, Tersteeg TA, Verhofstad AAJ, Vooijs GP (1992) Histological preservation afterin situ hybridization to archival solid tumour sections allows discrimination of cells bearing numerical chromosome changes.J Pathol 168: 317–324.

  29. Verma RS, Babu A (1989)Human Chromosomes. Manual of Basic Techniques. New York: Pergamon.

Download references

Author information

Correspondence to Jennifer Varley.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Loupart, M., Walker, R., Brammar, W. et al. Confirmation of the copy number of chromosome 1 in interphase nuclei from paraffin sections of breast tumours by fluorescencein situ hybridization. Chromosome Res 3, 410–416 (1995).

Download citation

Key words

  • breast cancer
  • chromosome 1
  • FISH
  • human