Hereditary GYN Cancer Syndromes: Practical Screening & Risk Reduction Guide

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.