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Updated: May 28, 2025

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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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.
ACG Case Reports Journal
|February 10, 2025
Summary
Families with multiple Lynch syndrome pathogenic variants require specialized genetic counseling and management. This case highlights the need for comprehensive genetic testing and tailored care for complex Lynch syndrome cases.
Area of Science:
- Genetics
- Oncology
- Genetic Counseling
Background:
- Lynch syndrome (LS) is an inherited cancer predisposition syndrome.
- Families with multiple LS pathogenic variants present complex genetic and clinical challenges.
- Current genetic testing strategies may not always capture the full spectrum of LS in these families.
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