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Association mapping of genes using whole genome polymorphism arrays: Identification of markers of breast cancer susceptibility in Alberta women Open Access


Other title
Whole genome study
Association mapping
Single nucleotide polymorphism
Breast cancer
Type of item
Degree grantor
University of Alberta
Author or creator
Chakravarthy Sridharan, Malinee
Supervisor and department
Damaraju, Sambasivarao (Laboratory Medicine and Pathology)
Examining committee member and department
Mackey, John (Oncology)
Cass, Carol (Oncology)
Yasui, Yutaka (Public Health)
Medical Sciences – Laboratory Medicine and Pathology

Date accepted
Graduation date
Master of Science
Degree level
Breast cancer is a heterogeneous, polygenic disease and is influenced by genetic, environmental and life-style factors. Many single nucleotide polymorphisms (SNPs) associated with breast cancer risk have been identified in genome-wide association studies (GWASs) by several research groups for different populations. However, the variants identified so far contribute to a small proportion of disease risk. The objectives of the work described in this thesis were (i) to seek relevance/replicability of reported risk alleles from SNP scans to our study population; and (ii) to perform an independent GWAS for identification of additional/novel polymorphisms in the Albertan population. We approached these two end points by using cases and controls recruited in Alberta (total sample size, n=3064) in a two-stage association study (discovery study followed by replication study). We reproduced 14 of the 28 variants reported by others and also identified seven novel variants associated with breast cancer risk in our study population.
License granted by Malinee Chakravarthy Sridharan ( on 2010-09-22T18:11:44Z (GMT): Permission is hereby granted to the University of Alberta Libraries to reproduce single copies of this thesis and to lend or sell such copies for private, scholarly or scientific research purposes only. Where the thesis is converted to, or otherwise made available in digital form, the University of Alberta will advise potential users of the thesis of the above terms. The author reserves all other publication and other rights in association with the copyright in the thesis, and except as herein provided, neither the thesis nor any substantial portion thereof may be printed or otherwise reproduced in any material form whatsoever without the author's prior written permission.
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