Preferred Label : Basal cell carcinoma, susceptibility to, 1;
Symbol : BCC1;
CISMeF acronym : BCC1;
Type : Phenotype or locus, molecular basis unknown;
Included titles and symbols : Basal cell carcinoma, nonsyndromic; Basal cell carcinoma, multiple;
Description : A locus associated with susceptibility to basal cell carcinoma has been identified
on chromosome 1p36 (BCC1). Susceptibility to basal cell carcinoma is a genetically
heterogeneous trait. Other loci associated with susceptibility have been identified
on chromosomes 1q42 (BCC2; 613058), 5p15 (BCC3; 613059), 12q13 (BCC4; 613061), 9p21
(BCC5; 613062), and 7q32 (BCC6; 613063). Variation in the 3-prime untranslated region
of TP53 (191170) increases susceptibility to basal cell carcinoma (BCC7; 614740).
Somatic mutation contributing to the formation of basal cell carcinoma has been identified
in the RASA1 (139150), PTCH1 (601309), and PTCH2 (603673) genes. 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 the sequence variants that confer susceptibility
seem to operate through their association with fair-pigmentation traits common among
Europeans, resulting in reduced protection from the damaging effects of ultraviolet
(UV) radiation. Other sequence variants have no obvious role in pigmentation or UV
susceptibility but instead seem to operate in the contexts of growth and differentiation
of the basal layers of the skin (Stacey et al., 2008; Epstein, 2008; Gudbjartsson
et al., 2008; Rafnar et al., 2009). See ASIP (600201), TYR (606933), and SHEP5 (227240)
for examples of basal cell carcinoma associated with fair skin or sensitivity to sun.
Basal cell carcinoma occurs as a feature of multiple syndromes, including basal cell
nevus syndrome (BCNS; 109400), Bazex syndrome (301845), Rombo syndrome (180730), Brooke-Spiegler
syndrome (605041), Muir-Torre syndrome (158320), and xeroderma pigmentosum (see 278700).
Abnormalities in the Hedgehog signaling pathway are found in basal cell carcinomas;
see SHH (600725) and SMOH (601500).;
Prefixed ID : %605462;
Origin ID : 605462;
UMLS CUI : C2751544;
Automatic exact mappings (from CISMeF team)
- Genes related to phenotype
- HPO term(s)
- Semantic type(s)
