Current and future role of genetic screening in gynecologic malignancies

被引:26
作者
Ring, Kari L. [1 ]
Garcia, Christine [1 ]
Thomas, Martha H. [2 ]
Modesitt, Susan C. [1 ]
机构
[1] Univ Virginia Hlth Syst, Div Gynecol Oncol, Dept Obstet & Gynecol, Charlottesville, VA 22903 USA
[2] Univ Virginia Hlth Syst, Div Canc Genet, Charlottesville, VA USA
关键词
BRCA; cervical cancer; endometrial cancer; hereditary cancer; high risk; Lynch syndrome; ovarian cancer; risk reduction; screening; REDUCING SALPINGO-OOPHORECTOMY; BRCA2 MUTATION CARRIERS; FAMILIAL OVARIAN-CANCER; PEUTZ-JEGHERS SYNDROME; LI-FRAUMENI SYNDROME; ENDOMETRIAL CANCER; GERMLINE MUTATIONS; LYNCH-SYNDROME; EMBRYONAL RHABDOMYOSARCOMA; PROPHYLACTIC SALPINGECTOMY;
D O I
10.1016/j.ajog.2017.04.011
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
The world of hereditary cancers has seen exponential growth in recent years. While hereditary breast and ovarian cancer and Lynch syndrome account for the majority of mutations encountered by gynecologists, newly identified deleterious genetic mutations continue to be unearthed with their associated risks of malignancies. However, these advances in genetic cancer predispositions then force practitioners and their patients to confront the uncertainties of these less commonly identified mutations and the fact that there is limited evidence to guide them in expected cancer risk and appropriate risk-reduction strategies. Given the speed of information, it is imperative to involve cancer genetics experts when counseling these patients. In addition, coordination of screening and care in conjunction with specialty high-risk clinics, if available, allows for patients to have centralized management for multiple cancer risks under the guidance of physicians with experience counseling these patients. The objective of this review is to present the current literature regarding genetic mutations associated with gynecologic malignancies as well to propose screening and risk-reduction options for these high-risk patients.
引用
收藏
页码:512 / 521
页数:10
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