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Updated: Aug 15, 2026

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
Published on: July 28, 2010
Abstract:
Three inherited types of large bowel cancer not associated with polyposis were previously proposed. A fourth should also be added to the list, namely, Torre's or Muir's syndrome. This report summarizes the clinical and genetic features of that syndrome in one family. The principle features of the syndrome comprise multiple skin tumors, i.e., sebaceous adenomas, keratoacanthomas, and basal and squamous cell carcinomas occurring with polyps and adenocarcinomas, mainly of the large bowel and also of the small intestine and stomach. Other malignancies occurring with the multiple skin tumors, with or without the involvement of intestinal malignancies, included adenocarcinoma of the uterus, transitional cell carcinoma of the bladder or ureter, squamous cell carcinoma of the larynx, esophagus, or vulva, and cancer of the breast. The syndrome followed a dominant mode of inheritance with high penetrance and variable expressivity, perhaps more variable in females than in males.
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