Article
The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studies.
BMC genetics - 4 Oct 2007
Pereira Lutécia H Mateus, Pineda Marbin A, Rowe William H, Fonseca Libia R, Greene Mark H, Offit Kenneth, Ellis Nathan A, Zhang Jinghui, Collins Andrew, Struewing Jeffery P
Abstract excerpt
BACKGROUND: We studied linkage disequilibrium (LD) patterns at the BRCA1 locus, a susceptibility gene for breast and ovarian cancer, using a dense set of 114 single nucleotide polymorphisms in 5 population groups. We focused on Ashkenazi Jews in whom there are known founder mutations, to address the question of whether we would have been able to identify the 185delAG mutation in a case-control association study...
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