Indeed, mutations in TYR gene may cause ocular albinism, a genetic condition associated with an increased risk of NMSCs. Moreover, a higher risk of BCC development has been associated with single nucleotides polymorphisms involving ASIP and TYR genes that are responsible for melanin hormone regulation. Some MC1R variants are more frequently found in patients with non-melanoma skin cancer (NMSC), solar keratosis and pronounced elastosis. RHC variants are responsible not only for the red hair color but also fair skin color, freckling and poor tanning response to UV. Roughly, there are more than 80 known different alleles, which have been associated with the red hair color (RHC) variants. MC1R is a membrane G coupled protein involved in melanin production. Other hereditary disorders predisposing to BCC are Xeroderma Pigmentosum and Bazex syndrome.Ī genetic link between melanocortin-1 receptor ( MC1R) gene polymorphisms and BCC risk has been reported. GS is associated with disorders affecting bones, skin, eyes and nervous system, and also an increased risk of BCC development. ![]() PTCH1 gene encodes the receptor of the sonic hedgehog ligand, whose dysregulation is known to be important in the cancerogenesis of many tumors including BCC. GS is caused by several germline mutations involving the patched 1 ( PTCH1) gene on the chromosome 9q22.3–q316. The Gorlin syndrome (GS), also known as basal cell nevus syndrome, is one of the most common autosomal dominant genodermatoses that is characterized by multiple BCCs development, with a disease incidence ranging from 1:56,000 to 1:164,000 among the general population. Regarding BCC genetic risk factors, it is well known that certain hereditary disorders predispose to an early onset of BCCs. BCC Risk Factors: Genetics and Phenotypes The aim of the present paper is to provide a comprehensive review on our current knowledge on BCC, focusing on histopathological features and molecular alterations, with a specific focus on their correlation with BCC therapies.Ģ. The likelihood of developing a BCC is therefore the result of a complex interaction between environmental, phenotypic and genetic factors. BCC incidence rises significantly after the age of 40 years, but recently an increased incidence has been registered among the younger population, especially women, as a result of a greater UV exposure to the sun or artificial sources. ![]() This epidemiological trend is expected to occur also in the near future, due to the enhanced diagnosis and the growing ageing population with an anamnestic ultraviolet (UV) exposure. The highest rise can be observed in Europe where the incidence has increased 5% annually in the past 10 years, versus about 2% in the United States. However, even though the incidence trend appears to have reached a plateau in Australia, in all other continents, including Asia and South America, the rate is constantly increasing. For this reason, similar incidence rates have been found in Europe, Canada and Asia, while Australia has the highest incidence worldwide. Indeed, the incidence of BCC is inversely related to a country geographic latitude combined with the pigment status of its inhabitants. BCCs are far more common in the Caucasian population. In many countries cancer registries do not encompass data on BCC due to its low mortality rate however, evaluating data from insurance registries and official statistics in the United Stated, BCC incidence has been estimated to reach 4.3 million cases each year. Basal cell carcinoma (BCC) is the most common skin malignancy worldwide.
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