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.

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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
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article

A Family With Multiple Lynch Syndrome Mutations: Navigating Counseling Complexities

Gretter Manso, Rachel Silva‐Smith, Daniel A. Sussman
ACG Case Reports Journal
Genetic factors in colorectal cancer
article

A Family With Multiple Lynch Syndrome Mutations: Navigating Counseling Complexities

Gretter Manso, Rachel Silva‐Smith, Daniel A. Sussman
article en

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.

ACG Case Reports JournalVol. 12(2)
University of Miami (US)
Openalex Percentile: Top 97%
Genetic factors in colorectal cancer
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