Ep. 53 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.

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Timestamps

00:00 - Introduction
01:37 - Why Hereditary Cancer Matters
04:51 - Family History Red Flags
09:01 - Who Should Order Genetic Testing
11:32 - Variants and Counseling Pitfalls
13:30 - Access and Remote Testing Options
19:27 - BRCA1 Positive Patient Walkthrough
24:52 - Risk-Reducing Surgeries
29:11 - Prevention and Screening Limits
32:38 - Why Ovarian Cancer Is Hard
34:04 - Combining Breast and Gyn Surgery
35:41 - Preop Ultrasound and CA-125
36:27 - BRCA Timing and HRT Nuance
42:32 - Nonhormonal Menopause Options
47:14 - Lynch Syndrome Screening Basics
54:22 - Endometrial Biopsy Debate
56:43 - Insurance and Coverage Pitfalls
59:00 - Fertility Preservation and REI
01:01:41 - Cascade Testing
01:02:45 - Conclusion

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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.

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Resources

NCCN Guidelines: Detection, Prevention, and Risk Reduction
https://www.nccn.org/guidelines/category_2