Gene copy number variation in male breast cancer by aCGH

Stefania Tommasi, Anita Mangia, Giuseppina Iannelli, Patrizia Chiarappa, Elena Rossi, Laura Ottini, Marcella Mottolese, Wainer Zoli, Orsetta Zuffardi, Angelo Paradiso

Research output: Contribution to journalArticlepeer-review


Background Male breast cancer (MBC) is a rare disease and little is known about its etiopathogenesis. Array comparative genomic hybridization (aCGH) provides a method to quantitatively measure the changes of DNA copy number and to map them directly onto the complete linear genome sequences. The aim of this study was to investigate DNA imbalances by aCGH and compare them with a female breast cancer dataset. Methods We used Agilent Human Genome CGH Microarray Kit 44B and 44 K to compare genomic alterations in 25 male breast cancer tissues studied at NCC of Bari and 16 female breast cancer deposited with the Gene Expression Omnibus (GSE 12659). Data analysis was performed with Nexus Copy Number 5.0 software. Results All the 25 male and 16 female breast cancer samples displayed some chromosomal instability (110,93 alterations per patient in female, 69 in male). However, male samples presented a lower frequency of genetic alterations both in terms of loss and gains. Conclusion aCGH is an effective tool for analysis of cytogenetic aberrations in MBC, which involves different biological processes than female. Male most significant altered regions contained genes involved in cell communication, cell division and immunological response, while female cell-cell junction maintenance, regulation of transcription and neuron development.

Original languageEnglish
Pages (from-to)467-473
Number of pages7
JournalCellular Oncology
Issue number5
Publication statusPublished - Oct 2011


  • ACGH
  • Familiarity
  • Male breast cancer

ASJC Scopus subject areas

  • Cancer Research
  • Molecular Medicine
  • Oncology


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