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Updated: Aug 4, 2026

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
Published on: July 28, 2010
[Clinical and cytogenetic investigation of a family with high predisposition for intestinal polyps]
A S Monakhov1, A V Guliaev, A V Aksenov
1N.N. Petrov Research Institute of Oncology, Ministry of Health of the RF, St. Petersburg.
Abstract:
A medico-genetic investigation of a family, consisting of 25 members, revealed high predisposition to malignant pathology of the gastrointestinal tract: rectal cancer was diagnosed in 2, malignant polyposis of the large intestine--1, diffuse polyposis of the large intestine (DPLI)--3, and uterine fibromyoma--in 1 patient. Six members underwent a cytogenetic examination using the metaphase method for peripheral blood lymphocytes and G-banding of chromosomes. Two patients with DPLI carried 8.7 and 16.7% of hyperaneuploid cells and one--20% of cells with double minute chromosomes (DMS). It is suggested that formation and subsequent significant increase in hyperaneuploid and DMS cells could have been responsible for DPLI development in the family.
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