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Full-Text Articles in Medicine and Health Sciences
Haplotype Analysis Of Common Variants In The Brca1 Gene And Risk Of Sporadic Breast Cancer, David G. Cox, Peter Kraft, Susan E. Hankinson, David J. Hunter
Haplotype Analysis Of Common Variants In The Brca1 Gene And Risk Of Sporadic Breast Cancer, David G. Cox, Peter Kraft, Susan E. Hankinson, David J. Hunter
Susan E. Hankinson
Introduction Truncation mutations in the BRCA1 gene cause a substantial increase in risk of breast cancer. However, these mutations are rare in the general population and account for little of the overall incidence of sporadic breast cancer. Method We used whole-gene resequencing data to select haplotype tagging single nucleotide polymorphisms, and examined the association between common haplotypes of BRCA1 and breast cancer in a nested case-control study in the Nurses' Health Study (1323 cases and 1910 controls). Results One haplotype was associated with a slight increase in risk (odds ratio 1.18, 95% confidence interval 1.02–1.37). A significant interaction (P = …
The Progesterone Receptor Val660→Leu Polymorphism And Breast Cancer Risk, Immaculata De Vivo, Susan E. Hankinson, Graham A. Colditz, David J. Hunter
The Progesterone Receptor Val660→Leu Polymorphism And Breast Cancer Risk, Immaculata De Vivo, Susan E. Hankinson, Graham A. Colditz, David J. Hunter
Susan E. Hankinson
Background Recent evidence suggests a role for progesterone in breast cancer development and tumorigenesis. Progesterone exerts its effect on target cells by interacting with its receptor; thus, genetic variations, which might cause alterations in the biological function in the progesterone receptor (PGR), can potentially contribute to an individual's susceptibility to breast cancer. It has been reported that the PROGINS allele, which is in complete linkage disequilibrium with a missense substitution in exon 4 (G/T, valine→leucine, at codon 660), is associated with a decreased risk for breast cancer. Methods Using a nested case-control study design within the Nurses' Health Study cohort, …
Towards An Integrated Model For Breast Cancer Etiology: The Lifelong Interplay Of Genes, Lifestyle, And Hormones, Susan E. Hankinson, Graham A. Colditz, Walter C. Willett
Towards An Integrated Model For Breast Cancer Etiology: The Lifelong Interplay Of Genes, Lifestyle, And Hormones, Susan E. Hankinson, Graham A. Colditz, Walter C. Willett
Susan E. Hankinson
While the association of a number of risk factors, such as family history and reproductive patterns, with breast cancer has been well established for many years, work in the past 10–15 years also has added substantially to our understanding of disease etiology. Contributions of particular note include the delineation of the role of endogenous and exogenous estrogens to breast cancer risk, and the discovery and quantification of risk associated with several gene mutations (e.g. BRCA1). Although it is difficult to integrate all epidemiologic data into a single biologic model, it is clear that several important components or pathways exist. Early …
Common Ataxia Telangiectasia Mutated Haplotypes And Risk Of Breast Cancer: A Nested Case–Control Study, Rulla Tamimi, Susan Hankinson, Donna Spiegelman, Peter Kraft, Graham Colditz, David Hunter
Common Ataxia Telangiectasia Mutated Haplotypes And Risk Of Breast Cancer: A Nested Case–Control Study, Rulla Tamimi, Susan Hankinson, Donna Spiegelman, Peter Kraft, Graham Colditz, David Hunter
Susan E. Hankinson
Introduction The ataxia telangiectasia mutated (ATM) gene is a tumor suppressor gene with functions in cell cycle arrest, apoptosis, and repair of DNA double-strand breaks. Based on family studies, women heterozygous for mutations in the ATM gene are reported to have a fourfold to fivefold increased risk of breast cancer compared with noncarriers of the mutations, although not all studies have confirmed this association. Haplotype analysis has been suggested as an efficient method for investigating the role of common variation in the ATM gene and breast cancer. Five biallelic haplotype tagging single nucleotide polymorphisms are estimated to capture 99% of …