Basal Cell Carcinoma, Susceptibility To, 1; Bcc1
Description
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 (OMIM ), TYR (OMIM ), and SHEP5 (OMIM ) 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 ), Bazex syndrome (OMIM ), Rombo syndrome (OMIM ), Brooke-Spiegler syndrome (OMIM ), Muir-Torre syndrome (OMIM ), and xeroderma pigmentosum (see {278700}).Abnormalities in the Hedgehog signaling pathway are found in basal cell carcinomas; see SHH (OMIM ) and SMOH (OMIM ).
Clinical Features
Phenotypes and symptoms related to Basal Cell Carcinoma, Susceptibility To, 1; Bcc1
- Neoplasm
- Carcinoma
- Nevus
- Basal cell carcinoma
- Generalized hypopigmentation
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Sources and references
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