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Åke Borg

Åke Borg

Principal investigator

Åke Borg

High-resolution genomic profiling of male breast cancer reveals differences hidden behind the similarities with female breast cancer


  • Ida Johansson
  • Cecilia Nilsson
  • Pontus Berglund
  • Carina Forsare
  • Göran B Jönsson
  • Johan Staaf
  • Markus Ringnér
  • Heli Nevanlinna
  • Rosa B. Barkardottir
  • Åke Borg
  • Håkan Olsson
  • Lena Luts
  • Marie-Louise Fjallskog
  • Ingrid Hedenfalk

Summary, in English

Male breast cancer (MBC) is extremely rare and poorly characterized on the molecular level. Using high-resolution genomic data, we aimed to characterize MBC by genomic imbalances and to compare it with female breast cancer (FBC), and further to investigate whether the genomic profiles hold any prognostic information. Fifty-six fresh frozen MBC tumors were analyzed using high-resolution tiling BAC arrays. Significant regions in common between cases were assessed using Genomic Identification of Significant Targets in Cancer (GISTIC) analysis. A publicly available genomic data set of 359 FBC tumors was used for reference purposes. The data revealed a broad pattern of aberrations, confirming that MBC is a heterogeneous tumor type. Genomic gains were more common in MBC than in FBC and often involved whole chromosome arms, while losses of genomic material were less frequent. The most common aberrations were similar between the genders, but high-level amplifications were more common in FBC. We identified two genomic subgroups among MBCs; male-complex and male-simple. The male-complex subgroup displayed striking similarities with the previously reported luminal-complex FBC subgroup, while the male-simple subgroup seems to represent a new subgroup of breast cancer occurring only in men. There are many similarities between FBC and MBC with respect to genomic imbalances, but there are also distinct differences as revealed by high-resolution genomic profiling. MBC can be divided into two comprehensive genomic subgroups, which may be of prognostic value. The male-simple subgroup appears notably different from any genomic subgroup so far defined in FBC.


  • Breastcancer-genetics
  • Tumor microenvironment
  • EpiHealth: Epidemiology for Health
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation

Publishing year







Breast Cancer Research and Treatment





Document type

Journal article




  • Cancer and Oncology


  • Male breast cancer
  • Array-CGH
  • BRCA2
  • Molecular subtypes
  • BPH




  • ISSN: 1573-7217