Study of familial breast cancer: identifying additional breast cancer susceptibility loci

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Title Study of familial breast cancer: identifying additional breast cancer susceptibility loci
Publication Type dissertation
School or College School of Medicine
Department Biomedical Informatics
Author Allen-Brady, Kristina Lisa
Date 2006-05
Description Breast cancer is a serious public health concern and despite intensive research, the etiology of breast cancer is poorly understood. Known risk factors explain only a small proportion of breast cancer, and yet familial aggregation, recent segregation analyses, and studies of low penetrance genes suggest that additional breast cancer susceptibility loci exist and perhaps act in a polygenic fashion. Here three strategies and their fulfillment, to aid in identification of additional breast cancer predisposition loci, are described. The first strategy, identification of a new breast cancer phenotype, was proposed to identify a homogenous subgroup of cases that could be clustered into a single gene or a minimal number of genes disorder. We show that the histological subtype lobular breast cancer, identified through a familial aggregation study, increases risk of breast cancer and specifically lobular breast cancer in lobular cancer families compared to risk associated with any type of breast cancer. Hence, study of lobular breast cancer families may be useful in locating additional breast cancer genes. Second, novel association methods that are adaptable to large pedigree resources, qualitative or quantitative data types, and the ability to perform a variety of statistical tests, correcting for correlations between related individuals, was proposed. This strategy was fulfilled with the development of the pedigree-based association tool, PedGenie. Lastly, strategies to improve the reproducibility of results and study design including use of tagging single nucleotide polymorphisms (tSNPs) to identify underlying haplotype and linkage disequilibrium structure, and control of potential population stratification were proposed. These concepts were incorporated into a study of five candidate genes involved in the DNA repair pathway. Linkage disequilibrium structure and identification of tSNPs for each gene are reported. For the gene <italic>XRCC4
Type Text
Publisher University of Utah
Subject Genetics; Etiology; Utah Cancer Registry
Subject MESH Breast Neoplasms; Genes; Histology
Dissertation Institution University of Utah
Dissertation Name PhD
Language eng
Relation is Version of Digital reproduction of "A study of familial breast cancer: identifying additional breast cancer susceptibility loci.." Spencer S. Eccles Health Sciences Library. Print version of "A study of familial breast cancer: identifying additional breast cancer susceptibility loci.." available at J. Willard Marriott Library Special Collection. RC39.5 2006 .A44.
Rights Management © Kristina Lisa Allen-Brady.
Format application/pdf
Format Medium application/pdf
Format Extent 2,863,919 bytes
Identifier undthes,4788
Source Original: University of Utah Spencer S. Eccles Health Sciences Library (no longer available).
Funding/Fellowship National Library of Medicine (T15 LM0724), Susan G. Komen Breast Cancer Foundation (DISS0201521) and Utah Cancer Registry supported by National Institues of Health Contract NO1-PC-35141; Surveillance, Epidemiology. End Result (SEER) Program; with additioinal support from the Utah Department of Health and University of Utah.
Master File Extent 2,863,954 bytes
ARK ark:/87278/s6x350cr
Setname ir_etd
ID 192024
Reference URL https://collections.lib.utah.edu/ark:/87278/s6x350cr
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