Distribution of FGFR2, TNRC9, MAP3K1, LSP1, and 8q24 alleles in genetically enriched breast cancer patients versus elderly tumor-free women.

摘要

Recent genome-wide association studies (GWAS) have led to the identification of several breast cancer (BC)-predisposing single nucleotide polymorphisms (SNPs) [1-8]. To our knowledge, this is the first time that in cancer research, the detected low-penetrance gene-disease interactions demonstrate a noticeable level of interlaboratory reproducibility [1-18] (Table 1). Most of the identified at-risk variants are characterized by odds ratios (ORs) close to or slightly exceeding the 1.1 value. A marginal degree of influence of individual SNPs on the risk of the disease is regarded as a general feature of BC-associated alleles that has to be considered while designing future investigations [19]. If we assume that the frequency of at-risk genotype is 20% and the associated OR is 1.1, the detection of this variant at 80% study power will require approximately 11,000 cases and controls.