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Related Experiment Video

Updated: Nov 2, 2025

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer

Published on: September 8, 2023

Recent advances in Lynch syndrome.

Xi Li^1,2,3, Guodong Liu^4,5,6, Wei Wu^7,8,9

¹Department of Geriatric Surgery, Xiangya Hospital, Central South University, Changsha, 410008, China.

Experimental Hematology & Oncology

|June 13, 2021

Summary

Lynch syndrome, a common hereditary cancer risk, involves DNA mismatch repair gene mutations leading to various cancers like colorectal and endometrial. Advances in genetics, diagnosis, and immunotherapy are improving patient outcomes.

Keywords:

Colorectal cancer DNA mismatch repair Endometrial cancer Immunotherapy Lynch syndrome

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Area of Science:

Genetics and Oncology
Hereditary Cancer Syndromes

Background:

Lynch syndrome is a prevalent hereditary cancer syndrome.
It significantly increases the risk of colorectal, endometrial, ovarian, and other cancers.
Germline variants in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or EPCAM deletions cause Lynch syndrome.

Purpose of the Study:

To review recent advances in Lynch syndrome.
Focus on molecular genetics, clinical features, diagnosis, surveillance, and treatment.

Main Methods:

Literature review of recent scientific advances.
Synthesis of information on molecular pathogenesis, diagnostics, and therapeutics.

Main Results:

MLH1 variants are associated with the highest risk of colorectal cancer.
MSH2 variants are linked to the highest risk of other cancers.
Colorectal and endometrial cancers are the most common in Lynch syndrome patients.

Conclusions:

Ongoing research is enhancing the understanding of Lynch syndrome.
Improved diagnostic testing and surveillance strategies are being developed.
Advances in immunotherapy offer new treatment opportunities for Lynch syndrome.