Prediction of Breast Cancer Risk by Whole Genome Profiling

摘要

The purpose of this Concept Award project was to determine the feasibility of genotyping a population of Ashkenazi Jewish (AJ) breast cancer cases and controls using high density single nucleotide polymorphism (SNP) microarrays, with the eventual goal of testing the hypothesis that most or all of breast cancer cases represent a complex polygenic disease, susceptibility to which can be assessed using high density SNP genetic profiling. Work under this award was accomplished in two phases. In the first, 100 AJ controls were genotyped using Affymetrix 500K and 100K SNP arrays; these experiments proved that the work was feasible and that high quality data could be generated using these reagents, and provided the data to construct the first detailed haplotype map of the AJ population. Analysis and preparation of these data for presentation are now underway. In the second phase, an additional 300 AJ cases and 200 controls will be genotyped using Affymetrix 500K and 100K SNP arrays, for a total of 300 eases and 300 controls. The DNA specimens have been collected for phase two, and genotyping of these samples is underway.