TY - JOUR AU - Pereira, Lutécia H. Mateus AU - Pineda, Marbin A. AU - Rowe, William H. AU - Fonseca, Libia R. AU - Greene, Mark H. AU - Offit, Kenneth AU - Ellis, Nathan A. AU - Zhang, Jinghui AU - Collins, Andrew AU - Struewing, Jeffery P. PY - 2007 DA - 2007/10/04 TI - 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 JO - BMC Genetics SP - 68 VL - 8 IS - 1 AB - 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 (should one have been done) using anonymous genetic markers. This mutation is present in approximately 1% of the general Ashkenazi population and 4% of Ashkenazi breast cancer cases. We evaluated LD using pairwise and haplotype-based methods, and assessed correlation of SNPs with the founder mutations using Pearson's correlation coefficient. SN - 1471-2156 UR - https://doi.org/10.1186/1471-2156-8-68 DO - 10.1186/1471-2156-8-68 ID - Pereira2007 ER -