| Literature DB >> 21959381 |
Phoebe Lee1, Yi-Ping Fu, Jonine D Figueroa, Ludmila Prokunina-Olsson, Jesus Gonzalez-Bosquet, Peter Kraft, Zhaoming Wang, Kevin B Jacobs, Meredith Yeager, Marie-Josèphe Horner, Susan E Hankinson, Amy Hutchinson, Nilanjan Chatterjee, Montserrat Garcia-Closas, Regina G Ziegler, Christine D Berg, Saundra S Buys, Catherine A McCarty, Heather Spencer Feigelson, Michael J Thun, Ryan Diver, Ross Prentice, Rebecca Jackson, Charles Kooperberg, Rowan Chlebowski, Jolanta Lissowska, Beata Peplonska, Louise A Brinton, Margaret Tucker, Joseph F Fraumeni, Robert N Hoover, Gilles Thomas, David J Hunter, Stephen J Chanock.
Abstract
In the National Cancer Institute Cancer Genetic Markers of Susceptibility (CGEMS) genome-wide association study of breast cancer, a single nucleotide polymorphism (SNP) marker, rs999737, in the 14q24.1 interval, was associated with breast cancer risk. In order to fine map this region, we imputed a 3.93 MB region flanking rs999737 for Stages 1 and 2 of the CGEMS study (5,692 cases, 5,576 controls) using the combined reference panels of the HapMap 3 and the 1000 Genomes Project. Single-marker association testing and variable-sized sliding-window haplotype analysis were performed, and for both analyses the initial tagging SNP rs999737 retained the strongest association with breast cancer risk. Investigation of contiguous regions did not reveal evidence for an additional independent signal. Therefore, we conclude that rs999737 is an optimal tag SNP for common variants in the 14q24.1 region and thus narrow the candidate variants that should be investigated in follow-up laboratory evaluation.Entities:
Mesh：
Year: 2011 PMID： 21959381 PMCID： PMC4159746 DOI： 10.1007/s00439-011-1088-4
Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132