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

Department of Oncology, Clinical Sciences, Lund University, BMC C13, 22184 Lund, Sweden.
Breast Cancer Research and Treatment (Impact Factor: 4.47). 11/2010; 129(3):747-60. DOI: 10.1007/s10549-010-1262-8
Source: PubMed

ABSTRACT 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.

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    ABSTRACT: Background The causes, optimal treatments, and medical/psychosocial sequelae of breast cancer in men are poorly understood.DesignA systematic review of the English language literature was conducted to identify studies relevant to male breast cancer between 1987 and 2012 and including at least 20 patients. Searches were carried out on PubMed using the title terms 'male breast cancer' or 'male breast carcinoma'.ResultsRelevant published data regarding risk factors, biological characteristics, presentation and prognosis, appropriate evaluation and treatment, and survivorship issues in male breast cancer patients are presented. BRCA2 mutations, age, conditions that alter the estrogen/androgen ratio, and radiation are proven risk factors. Disease biology is distinct in men, but diagnostic approaches and treatments for men are generally extrapolated from those in women due to inadequate research in men. Survivorship issues in men may include sexual and hormonal side-effects of endocrine therapies as well as unique psychosocial impacts of the disease.Conclusion Further research is needed to address gaps in knowledge pertaining to care of male breast cancer patients and survivors.
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    PLoS ONE 08/2013; 8(10):e78299. · 3.53 Impact Factor


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