COLORECTAL CANCER, SUSCEPTIBILITY TO, 10

General Information (adopted from Orphanet):

Synonyms, Signs: CRCS10
COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q
Number of Symptoms 5
OrphanetNr:
OMIM Id: 612591
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012114) Endometrial carcinoma 5 / 7739
2
(HPO:0200063) Colorectal polyposis 2 / 7739
3
(OMIM) Colorectal carcinoma 3 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Colorectal adenomas 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Palles et al. (2013) reported 2 large multigenerational families with a predisposition for the development of multiple colorectal adenomas and carcinomas between the ages of 26 and 68 years. In addition, 7 patients also developed endometrial carcinoma, and ...
Molecular genetics OMIM In affected members of 2 large multigenerational families with susceptibility to colorectal cancer-10, Palles et al. (2013) identified a heterozygous mutation in the POLD1 gene (S478N; 174761.0001). The mutation was identified by a combination of linkage analysis and ...