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Functional and Molecular Characterization of BRCA1 and BRCA2 Associated Breast Cancer

Vallon-Christersson, Johan LU (2005)
Abstract
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... (More)
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. (Less)
Please use this url to cite or link to this publication:
author
supervisor
opponent
  • Professor Quackenbush, John, The Institute for Genomic Research, Rockville, Maryland, USA
organization
publishing date
type
Thesis
publication status
published
subject
keywords
onkologi, cancer, Cytologi, cancerology, Cytology, BioArray Software Environment, BASE, Software, Open-source, Copy number, Gene expression, Microarray, BRCA2, BRCA1, Breast cancer, Hereditary cancer, oncology
pages
146 pages
publisher
KFS AB
defense location
Segerfalk lecture hall, Wallenberg Neuroscience Center, Lund.
defense date
2005-03-30 13:00
ISSN
1652-8220
ISBN
91-85439-14-2
language
English
LU publication?
yes
id
7a590914-d2ea-40ae-8e87-6e4617040341 (old id 544465)
date added to LUP
2007-10-13 13:19:15
date last changed
2016-09-19 08:44:56
@phdthesis{7a590914-d2ea-40ae-8e87-6e4617040341,
  abstract     = {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.},
  author       = {Vallon-Christersson, Johan},
  isbn         = {91-85439-14-2},
  issn         = {1652-8220},
  keyword      = {onkologi,cancer,Cytologi,cancerology,Cytology,BioArray Software Environment,BASE,Software,Open-source,Copy number,Gene expression,Microarray,BRCA2,BRCA1,Breast cancer,Hereditary cancer,oncology},
  language     = {eng},
  pages        = {146},
  publisher    = {KFS AB},
  school       = {Lund University},
  title        = {Functional and Molecular Characterization of BRCA1 and BRCA2 Associated Breast Cancer},
  year         = {2005},
}