Genomic Approaches to Identifying Breast Cancer Susceptibility Factors

摘要: The majority of the genetic variants underlying susceptibility to breast cancer are yet be discovered. Genome-wide linkage analyses, utilizing anonymous markers, have been successful at identifying two genes, BRCA1 and BRCA2, which account for a sizeable fraction clearly inherited forms occurring in autosomal dominant Mendellian patterns. Mutations these however, less than (1/4) total component remaining is likely polygenic nature - interaction mutations multiple each with weak effect, combination environmental influences. identification polygenes will require study large numbers unrelated subjects without case-control association studies. Until time when complete genome sequence information feasible all subjects, interim strategies involving subset common variation (primarily single nucleotide polymorphisms, SNPs) being planned. Assuming disease-common variant theory complex disease susceptibility, studying very dense set markers identify genes by virtue including either biologically relevant variant, or one closely correlated it due disequilibrium.