Ep. 109 Hereditary GYN Cancer Syndromes: Practical Screening & Risk-Reduction Guide with Dr. Marcia Ciccone

When to test, how to prevent, and what you need to know about hereditary gynecologic cancer syndromes. Two USC gynecologic oncologists, Dr. Mona Guo and Dr. Marcia Ciccone, go in-depth in this BackTable OBGYN x Tumor Board crossover episode. --- Get the BackTable app https://www.backtable.com/app --- Timestamps 00:00 - Introduction01:37 - Why Hereditary Cancer Matters04:51 - Family History Red Flags09:01 - Who Should Order Genetic Testing11:32 - Variants and Counseling Pitfalls13:30 - Access and Remote Testing Options19:27 - BRCA1 Positive Patient Walkthrough24:52 - Risk-Reducing Surgeries29:11 - Prevention and Screening Limits32:38 - Why Ovarian Cancer Is Hard34:04 - Combining Breast and Gyn Surgery35:41 - Preop Ultrasound and CA-12536:27 - BRCA Timing and HRT Nuance42:32 - Nonhormonal Menopause Options47:14 - Lynch Syndrome Screening Basics54:22 - Endometrial Biopsy Debate56:43 - Insurance and Coverage Pitfalls59:00 - Fertility Preservation and REI01:01:41 - Cascade Testing01:02:45 - Conclusion --- More about this episode Dr. Guo and Dr. Ciccone discuss how careful family history can identify patients who may benefit from genetic evaluation and highlight key red flags, including a family history of ovarian cancer, breast cancer at age 50 or younger, and metastatic prostate cancer. They explain the role of genetic counseling, including pre- and post-test discussions and how to approach variants of uncertain significance. They then cover BRCA counseling and risk-reduction strategies, including the timing of risk-reducing bilateral salpingo-oophorectomy, ongoing salpingectomy trials, and considerations for hysterectomy. Additionally, they touch on pathology protocols, breast cancer screening, and the potential protective effect of hormonal contraception. The doctors address the limitations of ovarian cancer screening and outline patterns suggestive of Lynch syndrome, such as endometrial cancer occurring alongside gastrointestinal or urinary tract cancers. They review the Lynch workup, including tumor mismatch repair immunohistochemistry and MLH1 hypermethylation testing. Finally, they discuss practical considerations like barriers to access, Medicare coverage challenges, fertility preservation referrals, menopause management, and cascade testing in families, including the timing of testing in children. --- Resources NCCN Guidelines: Detection, Prevention, and Risk Reductionhttps://www.nccn.org/guidelines/category_2