Tumor Biology

, Volume 36, Issue 2, pp 711–718 | Cite as

Combined analysis of copy number alterations by single-nucleotide polymorphism array and MYC status in non-metastatic breast cancer patients: comparison according to the circulating tumor cell status

  • R. Nadal
  • M. Salido
  • L. Nonell
  • M. Rodríguez-Rivera
  • E. Puigdecanet
  • J. L. Garcia-Puche
  • M. Macià
  • J. M. Corominas
  • M. J. Serrano
  • J. A. Lorente
  • F. Solé
Research Article


Recent technological advances have made it possible to detect circulating tumor cells (CTCs) as a prognostic marker in operable breast cancer patients. Whether the presence of CTCs in cancer patients correlates with molecular alterations in the primary tumor has not been widely explored. We identified 14 primary breast cancer specimens with known CTC status, in order to evaluate the presence of differential genetic aberrations by using SNP array assay. There was a global increase of altered genome, CNA, and copy-neutral loss of heterozygosity (cn-LOH) observed in the CTC-positive (CTC+) versus CTC-negative (CTC) cases. As the preliminary results showed a higher proportion of copy number alteration (CNA) at 8q24 (MYC loci) and the available evidence supporting the role of MYC in the processes cancer metastases is conflicting, MYC status was determined in tissue microarray sections in a larger series of patients (n = 49) with known CTC status using FISH. MYC was altered in 62 % (16/26) CTC+ patients and in 43 % (6/14) CTC patients (p = 0.25). Based on the observation in our study, future studies involving a larger number of patients should be performed in order to definitively define if this correlation exists.


Breast cancer MYC Circulating tumor cells Single-nucleotide polymorphism 



Circulating tumor cells






Breast cancer


Single-nucleotide polymorphism


Copy number aberrations


Prostate cancer


Loss of heterozygosity


Copy-neutral LOH


Estrogen receptor




Progesterone receptor




Hormonal receptor


Smallest overlapping regions of imbalance



We thank the patients for their participation in the study. We also thank Mr. John Pope for excellent editorial support.

Conflicts of interest


Grant support

This work was supported in part by a grant from the Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Spain (PI 08/0334); by the Red Temática de Investigación Cooperativa en Cáncer (RTICC, FEDER) (RD12/0036/0044); 2014 SGR225 (GRE) Generalitat de Catalunya the FIS [PI08/0334] FEDER; and the Public Health and Progress Foundation, Ministry of Health, Andalusian Government.

Supplementary material

13277_2014_2668_MOESM1_ESM.docx (35 kb)
ESM 1 (DOCX 34 kb)


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Copyright information

© International Society of Oncology and BioMarkers (ISOBM) 2014

Authors and Affiliations

  • R. Nadal
    • 1
    • 2
  • M. Salido
    • 3
  • L. Nonell
    • 4
  • M. Rodríguez-Rivera
    • 3
  • E. Puigdecanet
    • 4
  • J. L. Garcia-Puche
    • 5
  • M. Macià
    • 6
  • J. M. Corominas
    • 3
  • M. J. Serrano
    • 5
    • 7
  • J. A. Lorente
    • 5
    • 7
  • F. Solé
    • 1
    • 2
  1. 1.Institut de Recerca Contra la Leucèmia Josep CarrerasBadalonaSpain
  2. 2.Departament de MedicinaUniversitat Autónoma de BarcelonaBarcelonaSpain
  3. 3.Molecular Cytogenetic LaboratoryPathology Department, Parc de Salut Mar-Hospital del Mar- IMIM-GRETNHEBarcelonaSpain
  4. 4.Servei d’Anàlisi de MicroarraysIMIM (Institut de Recerca Hospital del Mar)BarcelonaSpain
  5. 5.GENYOCentre for Genomics and Oncological Research: Pfizer/University of Granada/Andalusian Regional Government PTS GranadaGranadaSpain
  6. 6.Oncology DepartmentHospital del Mar-IMASBarcelonaSpain
  7. 7.Laboratory of Genetic Identification-UGR, Department of Legal MedicineUniversity of GranadaGranadaSpain

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