Susan M. Domchek, MD

Dr. Susan Domchek discusses the increased understanding of moderate penetrance genes and the importance of managing patients with these genes on a case-by-case basis.

As part of our coverage of the 2014 ASCO Annual Meeting, we discuss treatment strategies for breast cancer patients who harbor either the BRCA1 or BRCA2 mutation.

More than a decade has passedsince the cancer predispositiongenes BRCA1 andBRCA2 were cloned. Collectively,these genes are responsible for virtuallyall hereditary breast/ovarian cancerfamilies as well as a smaller subsetof hereditary site-specific breast cancerfamilies.[1] Their discovery helped usherin a new age of predictive and preventivemedicine for those at risk ofbreast and ovarian cancer, two of themost common forms of cancer in womenin the United States.[2] Peshkin andIsaacs provide an excellent summaryof cancer susceptibility due to inheritedmutations in BRCA1 and BRCA2,including approaches to assessing personaland family history for the likelihoodof finding these mutations, theirassociated cancer risks, and options forclinical management.