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GTR Home > Conditions/Phenotypes > Colorectal cancer, susceptibility to, 12

Summary

Colorectal cancer-12 (CRCS12) is an autosomal dominant disorder characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset usually occurs before age 40 years. The histologic features of the tumors may be unremarkable (Palles et al., 2013) or show microsatellite instability (MSI) (Elsayed et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CRCS12, FILS, IMAGEI, POLE1, POLE
    Summary: DNA polymerase epsilon, catalytic subunit

Clinical features

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