Genetic Testing after Breast Cancer Diagnosis: Implications for Physician-Patient Communications

Extract

In November 2003, researchers at Cambridge University announced they had identified a gene associated with an elevated risk of breast and related ovarian cancers. The gene—christened EMSY in honor of a breast-cancer nurse who is the sister of the study's lead author—is particularly significant because it is linked to so-called sporadic cancers. Such cancers do not arise from hereditary mutations of the BRCA1 and BRCA2 genes, in which genes that ordinarily prevent breast and ovarian cancers are altered, often giving rise to multiple cases of cancer within a family as the mutation is passed along. The Cambridge researchers determined that the presence of extra copies of EMSY in an individual may instead switch off a healthy BRCA2 gene.