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A Family With Multiple Lynch Syndrome Mutations: Navigating Counseling Complexities
Rachel Silva-Smith1, Gretter Manso1, Daniel Andrew Sussman2
1Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL.
Abstract:
Families with multiple Lynch syndrome pathogenic variants present unique challenges in genetic counseling and clinical management. We report a family with pathogenic variants in multiple mismatch repair genes identified through multigene panel testing. Key issues highlighted by this case include recognizing when comprehensive genetic testing is necessary, tailoring management to specific genetic mutations, and ensuring accurate communication. This case highlights potential pitfalls in risk assessment and counseling for complex Lynch syndrome families.
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