Updates on Breast Cancer Genetics: Clinical Implications of Detecting Syndromes of Inherited Increased Susceptibility to Breast Cancer

Since the initial discovery that pathogenic germline alterations in BRCA 1/2 increase susceptibility to breast and ovarian cancer, many additional genes have now been discovered which also increase breast cancer risk. Given that several more genes have now been implicated in hereditary breast cancer syndromes, there is increased clinical use of multigene panel testing to evaluate patients with a suspected genetic predisposition to breast cancer. While this is most certainly a cost-effective approach, broader testing strategies have resulted in a higher likelihood of identifying moderate-penetrance genes, for which management guidelines regarding breast cancer risk reduction have not been firmly established.
Source: Seminars in Oncology - Category: Cancer & Oncology Authors: Source Type: research