BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1

General Information (adopted from Orphanet):

Synonyms, Signs: BASAL CELL CARCINOMA, MULTIPLE, INCLUDED
BCC1 BASAL CELL CARCINOMA, NONSYNDROMIC, INCLUDED
Number of Symptoms 1
OrphanetNr:
OMIM Id: 605462
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002671) Basal cell carcinoma 18 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cutaneous basal cell carcinoma (BCC) is the most common cancer among people of European ancestry (Stacey et al., 2009). The primary environmental risk factor for BCC is sun exposure, but genetics also has a substantial role. Some of ...
Molecular genetics OMIM Friedman et al. (1993) analyzed 188 human tumor samples for mutations within the catalytic domain of the GAP gene and for mutations within its C-terminal SH2 region. Although no mutations could be demonstrated in the catalytic domain, 3 ...