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gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

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Cascade Genetic Testing Among Relatives at Risk for Lynch Syndrome: A Systematic Review and Meta-Analysis.

Isabelle R Chandler^1,2, Muhammad Danyal Ahsan¹, Nicole M Frontera³

¹Genetics and Personalized Cancer Prevention Program, Weill Cornell Medicine, New York, NY.

JCO Oncology Practice

|April 29, 2026

Summary

This summary is machine-generated.

Cascade genetic testing uptake in Lynch syndrome families is suboptimal, with only 46% of relatives tested. Targeted interventions are needed to improve rates, especially for males and distant relatives.

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Area of Science:

Genetics
Oncology
Public Health

Background:

Lynch syndrome is an inherited condition increasing cancer risk.
Cascade genetic testing aims to identify at-risk relatives.

Purpose of the Study:

To systematically review and meta-analyze cascade genetic counseling and testing uptake in Lynch syndrome families.
To provide an updated estimate of testing rates to guide future identification efforts.

Main Methods:

Systematic review and meta-analysis following PRISMA guidelines.
Comprehensive literature search across electronic databases.
Meta-analysis of data from 18 studies (4,939 probands, 10,461 relatives).

Main Results:

Genetic counseling uptake was 42% among relatives.
Overall cascade genetic testing uptake was 46%.
Uptake was higher in females and first-degree relatives.

Conclusions:

Cascade genetic testing utilization in Lynch syndrome families is suboptimal.
Uptake is particularly low among male and more distantly related individuals.
Interventions are needed to improve equitable testing rates for at-risk relatives.