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A Family With Multiple Lynch Syndrome Mutations: Navigating Counseling Complexities

Year: 2025

Type: article

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.

Source: ACG Case Reports Journal

DOI: 10.14309/crj.0000000000001606

Authors: Rachel Silva-Smith, Gretter Manso, Daniel Andrew Sussman

Institution: University of Miami

Language: English

Topic: Genetic factors in colorectal cancer

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4407240128

FWCI: 0.598

Cites: 5

Cited by: 1

Related to: 10