Sökning: AMNE:(MEDICAL AND HEALTH SCIENCES Clinical Medicine Cancer and Oncology)
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Functional and Mole...
Functional and Molecular Characterization of BRCA1 and BRCA2 Associated Breast Cancer
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- Vallon-Christersson, Johan (författare)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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(creator_code:org_t)
- ISBN 9185439142
- 2005
- Engelska 146 s.
- Relaterad länk:
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https://lup.lub.lu.s...
Abstract
Ämnesord
Stäng
- This doctoral dissertation is based on five appended papers primarily concerned with three main topics, namely: the functional characterization of specific and clinically relevant perturbations found in BRCA1 ? one of the major breast cancer susceptibility genes; the use of microarray technologies for molecular characterization of hereditary breast tumor samples from a genomic perspective; and finally, the development of software to address some of the logistical problems of data analysis and management that arise when utilizing microarrays. Results obtained from the work presented herein demonstrate the following: that transcription az says can aid in the characterization of C-terminal missense mutations but that it may not be possible to unambiguously characterize variants with a yeast-based assay alone; that a naturally occurring C-terminal germline mutation in BRCA1 encodes a protein with apparent temperature-dependant functional properties; that open-source software can provide comprehensive solutions to meet data management needs of microarray experimenters; that BRCA1 and BRCA2 associated breast tumors exhibit markedly different copy number aberrations when compared to each other as well as to sporadic tumors; and that gene expression profiling in BRCA1 and BRCA2 associated breast tumors reveals specific gene expression patterns.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Nyckelord
- onkologi
- cancer
- Cytologi
- cancerology
- Cytology
- BioArray Software Environment
- BASE
- Software
- Open-source
- Copy number
- Gene expression
- Microarray
- BRCA2
- BRCA1
- Breast cancer
- Hereditary cancer
- oncology
Publikations- och innehållstyp
- dok (ämneskategori)
- vet (ämneskategori)
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