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Related Experiment Video

Updated: Jun 24, 2025

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Published on: October 14, 2021

[Lynch syndrome].

Verena Steinke-Lange^1,2,3,4, Elke Holinski-Feder^5,6,7,8

¹MGZ - Medizinisch Genetisches Zentrum, Bayerstraße 3-5, 80335, München, Deutschland. verena.steinke-lange@mgz-muenchen.de.

Pathologie (Heidelberg, Germany)

|June 12, 2024

Summary

This summary is machine-generated.

Lynch syndrome, a common hereditary cancer risk, stems from DNA mismatch repair gene variants. Early diagnosis allows for genetic testing, targeted surveillance, and aspirin chemoprevention for patients and families.

Keywords:

DNA mismatch repair Genomic instability Hereditary nonpolyposis colorectal cancer Hereditary tumor predisposition Microsatellite instability

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Last Updated: Jun 24, 2025

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

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Published on: October 14, 2021

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Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting

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Published on: May 1, 2015

Area of Science:

Genetics
Oncology
Hereditary Cancer Syndromes

Background:

Lynch syndrome is a frequent hereditary cancer predisposition.
It significantly increases the risk of gastrointestinal and gynecological tumors.
Autosomal dominant inheritance of DNA mismatch repair gene variants causes Lynch syndrome.

Purpose of the Study:

To highlight the importance of diagnosing Lynch syndrome.
To inform about the implications for patients and their families.
To underscore the role of genetic variants and microsatellite instability.

Main Methods:

Detection of causative genetic variants in patients.
Analysis of microsatellite instability in tumor tissue.
Family-member predictive testing and risk-adapted surveillance strategies.

Main Results:

Identification of specific DNA mismatch repair gene variants.
Demonstration of microsatellite instability in affected individuals' tumors.
Successful implementation of predictive testing for relatives.

Conclusions:

Diagnosing Lynch syndrome is crucial for patient and family management.
Genetic testing enables personalized cancer surveillance and prevention.
Aspirin chemoprevention shows promise for Lynch syndrome patients.