Evaluation of chromosomal diagnosis for hereditary adenomatosis of the colorectum.

Abstract

Hereditary adenomatosis, particularly familial polyposis coli (FPC) and Gardner's syndrome (GS), has been investigated from family pedigrees and chromosomal markers for precancer and cancer. FPC and GS are much alike in phenotypes. Studies are in progress to determine if the two adenomatous diseases are controlled by the same DNA sequence. Chromosome numerical and structural instability is a good diagnostic criterion for hereditary adenomatous diseases where risk factors are already determined to the level of 0.5 probability from pedigree analysis. This has been applied successfully at the pediatric age level to identify family members who carry the gene but have no adenomas in the colorectum. Sister chromatid exchange (SCE) did not distinguish plasma samples from FPC, GS, or solitary adenoma patients form each other or from controls with no adenomas. SCE did distinguish invasive from recurrent and noninvasive cancer. The chromosome #2 polymorphism observed at 2q-21.3 has not been confirmed as a deletion, but is under investigation with more refined methods.

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