ABCD: Arquivos Brasileiros de Cirurgia Digestiva (Jul 2024)

A REVIEW TO HONOR THE HISTORICAL CONTRIBUTIONS OF PAULINE GROSS, ALDRED WARTHIN, AND HENRY LYNCH IN THE DESCRIPTION AND RECOGNITION OF INHERITANCE IN COLORECTAL CANCER

  • Fábio Guilherme CAMPOS,
  • Leonardo Afonso BUSTAMANTE-LOPEZ,
  • Luiz Augusto Carneiro D’ALBUQUERQUE,
  • Ulysses RIBEIRO JUNIOR,
  • Paulo HERMAN,
  • Carlos Augusto Real MARTINEZ

DOI
https://doi.org/10.1590/0102-6720202400019e1812
Journal volume & issue
Vol. 37

Abstract

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ABSTRACT The present manuscript aimed to review the historical development and most important contributions regarding Lynch Syndrome since its first description, more than a century ago. In 1895, a reputed pathologist from Michigan University, Dr. Aldred Scott Warthin, got intrigued by the family history of a local seamstress called Pauline Gross. According to her prevision, she would present an early death due to cancer, which actually happened (from the uterus). Historically, her family was designated “Family G”, comprising a group recognized as the longest and most detailed cancer genealogy that has ever been studied. Warthin concluded that its members had genetic susceptibility for cancer, and they are, nowadays, considered the first reported Lynch Syndrome family. At that time, however, the medical cancer community was far less receptive to the association between heredity and cancer, despite the description of other families with similar heredograms. Unfortunately, this historical fact remained somewhat dormant until another investigator inaugurated a new era in the understanding of family cancer clusters. After reports and studies from this family and many others, the condition initially called Cancer Family Syndrome was changed to the eponym Lynch Syndrome. This was a recognition of the extensive and dedicated work developed by Dr. Henry Lynch in describing various characteristics of the disease, and his efforts to establish the correct recommendations for its diagnosis and treatment. Although the future announces there is still far to go for a complete understanding of Lynch Syndrome, the remarkable contributions of Pauline’s intuition, Warthin’s perseverance, and Lynch’s work consistency must never be forgotten by those who already have or will still benefit from this knowledge.

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