A Family With Multiple Lynch Syndrome Mutations: Navigating Counseling Complexities
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.
Authors
- Gretter Manso
- Rachel Silva‐Smith (ORCID: https://orcid.org/0000-0001-8130-6877)
- Daniel A. Sussman (ORCID: https://orcid.org/0000-0002-4226-5264)
Institutions
- University of Miami (US)
Publication Details
- Journal
- ACG Case Reports Journal
- Published
- 2025-02-01
- DOI
- https://doi.org/10.14309/crj.0000000000001606
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00