COLORECTAL CANCER, SUSCEPTIBILITY TO, 12

General Information (adopted from Orphanet):

Synonyms, Signs: CRCS12
COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24
Number of Symptoms 5
OrphanetNr:
OMIM Id: 615083
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0200063) Colorectal polyposis 2 / 7739
2
(HPO:0003581) Adult onset 117 / 7739
3
(OMIM) Colorectal adenomas 3 / 7739
4
(OMIM) Colorectal carcinoma 3 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Palles et al. (2013) reported a large 3-generation family in which 8 individuals had various manifestations of a colorectal adenoma syndrome with predisposition to colorectal carcinoma. Affected individuals developed multiple adenomas or colorectal cancer as adults, between ages ...
Molecular genetics OMIM In affected members of a family with susceptibility to colorectal cancer-12, Palles et al. (2013) identified a heterozygous missense mutation in the POLE gene (L424V; 174762.0001) affecting a highly conserved residue in the exonuclease (proofreading) domain. The mutation ...