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Peer-reviewedCC BYFamilial cancer

Updated cancer risks in lynch syndrome.

  • Christine M Drogan1
  • Sonia S Kupfer2
  1. 1Center for Clinical Genetics and Genomics, University of Chicago, IL, Chicago, United States of America.
  2. 2Department of Medicine, Section of Gastroenterology, Hepatology and Nutrition, University of Chicago, Chicago, IL, USA. [email protected].
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Abstract

Lynch syndrome, one of the most common hereditary cancer predisposition syndromes, is caused by pathogenic variants in the mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the EPCAM gene. Individuals who inherit pathogenic variants in Lynch-associated genes experience increased lifetime risk of colorectal, endometrial, and several other cancer types. Risks of Lynch-associated cancers vary by the affected gene and within each gene, especially for lower penetrance genes. This poses challenges for clinicians to provide patients and families with accurate cancer risk estimates and determine individualized surveillance protocols. Compounding this challenge is that study designs and potential biases could yield different risk estimates. In this review, we present up-to-date Lynch syndrome cancer risk estimates and discuss how study design could impact these risk estimates.

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Cite

BibTeXRIS
BibTeX
@article{drogan2026updated,
  title = {{Updated cancer risks in lynch syndrome.}},
  author = {Christine M Drogan and Sonia S Kupfer},
  journal = {Familial cancer},
  year = {2026},
  month = oct,
  doi = {10.1007/s10689-026-00598-5},
  url = {https://europepmc.org/article/MED/42900270},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Updated cancer risks in lynch syndrome.
AU  - Christine M Drogan
AU  - Sonia S Kupfer
PY  - 2026
DA  - 2026/10/20
JO  - Familial cancer
DO  - 10.1007/s10689-026-00598-5
UR  - https://europepmc.org/article/MED/42900270
AB  - Lynch syndrome, one of the most common hereditary cancer predisposition syndromes, is caused by pathogenic variants in the mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the EPCAM gene. Individuals who inherit pathogenic variants in Lynch-associated genes experience increased lifetime risk of colorectal, endometrial, and several other cancer types. Risks of Lynch-associated cancers vary by the affected gene and within each gene, especially for lower penetrance genes. This poses challenges for clinicians to provide patients and families with accurate cancer risk estimates and determine individualized surveillance protocols. Compounding this challenge is that study designs and potential biases could yield different risk estimates. In this review, we present up-to-date Lynch syndrome cancer risk estimates and discuss how study design could impact these risk estimates.
SN  - 1389-9600
SN  - 1573-7292
ER  -