Risk and Prevention for Highly Penetrant Genes

AbstractPurpose of ReviewApproximately 10% of breast cancer cases are attributed to a hereditary predisposition. Here, we review the risks and management options for highly penetrant genes includingBRCA1/2,TP53,PTEN,CDH1,STK11, andPALB2 which confer a 5 to greater than 10-fold increased risk of breast cancer, and an increased risk of other cancers.Recent FindingsRisk-reducing salpingo-oophorectomy (RRSO) reduces mortality inBRCA1/2 carriers. Other management strategies are tailored to the hereditary cancer syndrome in question and include more intensive screening with imaging and serologic studies, risk-reducing surgeries such as mastectomy, and consideration of risk reduction agents.SummaryGiven the advances in our knowledge regarding the impact of management strategies in mutation carriers, genetic testing for high-penetrance breast cancer genes has become standard of care. It is critically important to discuss the implications of testing unaffected family members, in order to be able to offer impactful interventions to healthy at-risk individuals.
Source: Current Breast Cancer Reports - Category: Cancer & Oncology Source Type: research