Identifying and Managing Risk Reduction for Hereditary Gynecologic Cancers

• 作 者: Lee-mayChen;
• 机 构: Edward C.Hill Endowed Chair in Gynecologic Oncology Department of Obstetrics, Gynecology, & Reproduc
• 出 处: BITs 3rd Annual World Cancer Congress-2012(2012第五届世界癌症大会)
• 发表日期: 2012年期

　　Approximately 5-10% of gynecologic cancers are attributable to hereditary cancer syndromes and their associated germline mutations, most notably Hereditary Breast and Ovarian Cancer (BRCA1 & BRCA2) and Lynch Syndrome (MLH1, MSH2, MSH6, PMS2, and others).Identifying ovarian cancer patients who are at risk for Hereditary Breast and Ovarian Cancer may help the individual recognize their concomitant breast cancer risk as well as provide options for therapeutic management related to platinum sensitivity and homologous recombination defects.For unaffected family members carrying a deleterious BRCA1 or BRCA2 mutation, they may be candidates for breast cancer screening and ovarian cancer risk-reducing salpingooophorectomy.Coordination of risk-reducing surgeries with breast and plastic surgeons is feasible and provides patientcentered care.Identifying endometrial cancer patients who are at risk for Lynch Syndrome may help the individual recognize their concomitant colorectal cancer risk, providing the opportunity for colonoscopy screening in both the affected woman as well as her family members.Selecting the appropriate subgroup of endometrial cancer patients for genetic counseling and testing may be performed through immunohistochemistry on tumor tissue.Specific clinical and pathologic selection criteria may help focus resources.Patient awareness and access to genetic counseling is critical to their understanding of their personal health and cancer risks.