ABSTRACT
This study was an investigation into the genetic epidemiology of breast cancer using segregation analysis of a cohort of 200 Danish families. The study suggested that the observed distribution of breast cancer in these families was consistent with autosomal-dominant transmission of disease susceptibility, conferred solely by one major gene. The gene frequency of the mutant allele was estimated to be much less than 1% in the general population but accounting for a significant proportion of breast cancer among women with an early age of diagnosis. The authors concluded that among older women with breast cancer, the majority are phenocopies.
