Colorectal cancer, susceptibility to, 12

Preferred Label : Colorectal cancer, susceptibility to, 12;

Symbol : CRCS12;

CISMeF acronym : Crcs12; CRCS12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Colorectal cancer, susceptibility to, on chromosome 12q24;

Description : Colorectal cancer-12 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 is usually before age 40 years. The histologic features of the tumors are unremarkable (summary by Palles et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DNA polymerase, epsilon gene (POLE, 174762.0001);

Neoplasia : Colorectal carcinoma; Endometrial cancer;

Prefixed ID : #615083;

Details

Origin ID

615083;

UMLS CUI

C3554460;

Automatic exact mappings (from CISMeF team)
- POLE wt Allele [NCIt concept]
Genes related to phenotype
- Polymerase, dna, epsilon [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Carcinoma [HPO term]
- Colorectal polyposis [HPO term]
ORDO concept(s)
- Attenuated familial adenomatous polyposis [ORDO Disease]
- Polymerase proofreading-related adenomatous polyposis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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