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Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression

Poplawski, Andrzej B. (author)
Jankowski, Michal (author)
Erickson, Stephen W. (author)
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de Ståhl, Teresita Díaz (author)
Uppsala universitet,Institutionen för genetik och patologi
Partridge, E. Christopher (author)
Crasto, Chiquito (author)
Guo, Jingyu (author)
Gibson, John (author)
Menzel, Uwe (author)
Uppsala universitet,Institutionen för genetik och patologi
Bruder, Carl E. G. (author)
Kaczmarczyk, Aneta (author)
Uppsala universitet,Institutionen för genetik och patologi
Benetkiewicz, Magdalena (author)
Uppsala universitet,Institutionen för genetik och patologi
Andersson, Robin (author)
Uppsala universitet,Centrum för bioinformatik
Sandgren, Johanna (author)
Uppsala universitet,Institutionen för genetik och patologi
Zegarska, Barbara (author)
Bala, Dariusz (author)
Srutek, Ewa (author)
Allison, David B. (author)
Piotrowski, Arkadiusz (author)
Uppsala universitet,Institutionen för genetik och patologi
Zegarski, Wojciech (author)
Dumanski, Jan P. (author)
Uppsala universitet,Institutionen för genetik och patologi
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 (creator_code:org_t)
2010-01-06
2010
English.
In: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 18:5, s. 560-568
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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

Subject headings

NATURVETENSKAP  -- Biologi (hsv//swe)
NATURAL SCIENCES  -- Biological Sciences (hsv//eng)

Keyword

amplification
gain
deletion
oncogenes
tumor suppressor genes
array-CGH
MEDICINE
MEDICIN
Biology
Biologi

Publication and Content Type

ref (subject category)
art (subject category)

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