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Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2010 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 18, no 5, 560-568 p.Article in journal (Refereed) Published
Abstract [en]

Breast cancer is a major cause of morbidity and mortality in women and its metastatic spread is the principal reason behind the fatal outcome. Metastasis-related research of breast cancer is however underdeveloped when compared with the abundant literature on primary tumors. We applied an unexplored approach comparing at high resolution the genomic profiles of primary tumors and synchronous axillary lymph node metastases from 13 patients with breast cancer. Overall, primary tumors displayed 20% higher number of aberrations than metastases. In all but two patients, we detected in total 157 statistically significant differences between primary lesions and matched metastases. We further observed differences that can be linked to metastatic disease and there was also an overlapping pattern of changes between different patients. Many of the differences described here have been previously linked to poor patient survival, suggesting that this is a viable approach toward finding biomarkers for disease progression and definition of new targets useful for development of anticancer drugs. Frequent genetic differences between primary tumors and metastases in breast cancer also question, at least to some extent, the role of primary tumors as a surrogate subject of study for the systemic disease. European Journal of Human Genetics (2010) 18, 560-568; doi:10.1038/ejhg.2009.230; published online 6 January 2010

Place, publisher, year, edition, pages
2010. Vol. 18, no 5, 560-568 p.
Keyword [en]
amplification, gain, deletion, oncogenes, tumor suppressor genes, array-CGH
National Category
Medical and Health Sciences Biological Sciences
URN: urn:nbn:se:uu:diva-136352DOI: 10.1038/ejhg.2009.230ISI: 000276955500011OAI: oai:DiVA.org:uu-136352DiVA: diva2:376591
Available from: 2010-12-11 Created: 2010-12-11 Last updated: 2010-12-11Bibliographically approved

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Department of Genetics and PathologyThe Linnaeus Centre for Bioinformatics
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European Journal of Human Genetics
Medical and Health SciencesBiological Sciences

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