Hereditary gynecologic cancers: risk assessment, counseling, testing and management

Abstract

Gynecologists and gynecologic oncologists have a major role in identifying patients at increased risk of inherited cancer syndromes. Awareness of the biological and familial risk factors is useful in this practice, and can assist patients and families in navigating the follow-up for these complex disorders. Large national and international cohorts of women with known BRCA1/2 mutations or high risk continue to collect data in an attempt to better understand genetic risk, risk modifiers, and quality-of-life impact or screening, testing and risk reduction strategies. The Consortium of Investigators of Modifiers of BRCA1/2 is beginning to identify other genetic modifiers of BRCA1/2 risk and cancer cluster regions in an attempt to better individualize site specific cancer risk and prevention strategies. The Gynecologic Oncology Group has initiated along-term follow-up study to the Gynecologic Oncology Group 199 protocol, which will continue to advance understanding of patient decisions, quality-of-life impact, and other genetic factors responsible for cancer initiation and progression. These and other large consortia are invaluable resources with massive datasets requiring herculean analyses that will continue to rapidly advance our present knowledge and management of women with hereditary cancer syndromes.