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Updated: Feb 15, 2026

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Lynch syndrome.

Floor J Backes1, David E Cohn

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Lynch syndrome, a hereditary cancer, increases risks for colorectal and uterine cancers due to mismatch repair gene defects. Early diagnosis enables crucial screening and risk-reducing surgeries.

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Area of Science:

  • Genetics
  • Oncology
  • Medical History

Background:

  • Lynch syndrome, initially known as Hereditary Nonpolyposis Colorectal Cancer, was discovered nearly a century ago.
  • The condition is an autosomal-dominant inherited cancer syndrome.
  • While colorectal cancer is prevalent, uterine cancer and other malignancies are also part of its spectrum.

Purpose of the Study:

  • To highlight the significance of Lynch syndrome.
  • To emphasize the role of mismatch repair gene defects.
  • To underscore the importance of early diagnosis for cancer prevention and management.

Main Methods:

  • Historical review of Lynch syndrome discovery and nomenclature.
  • Description of the genetic basis (mismatch repair gene defects).
  • Clinical recognition of associated malignancies.

Main Results:

  • Lynch syndrome significantly increases the risk of colorectal and uterine cancers.
  • Defects in mismatch repair genes are the underlying cause.
  • Early identification is critical for patient outcomes.

Conclusions:

  • Prompt recognition and diagnosis of Lynch syndrome are vital.
  • Implementing screening programs and risk-reducing surgeries can prevent cancer development.
  • Early detection of cancers in Lynch syndrome patients improves prognosis.