Comparative genomic hybridization analysis of basal cell carcinoma

Basal cell carcinomas of the scalp after radiotherapy for tinea capitis in childhood: A genetic and epigenetic study with comparison with basal cell carcinomas evolving in chronically sun‐exposed areas

“…Loss of the chromosomal locus of PTCH1 studied by CGH has been previously described in a few studies of sporadic BCCs, with numbers varying according to different authors, from 33% to 54% of cases, with the majority occurring in sun-exposed areas. [16][17][18] TP53 is another gene that is frequently mutated in BCC, with the most recent studies estimating that this abnormality is found in roughly up to two-thirds of cases (up to 66%), as briefly discussed in the introduction. In our samples, loss of TP53 was found in 3/14 (21%) of sBCC and 2/14 (14%) of rtBCC, suggesting that this mechanism is less frequently implicated than point mutations in the genesis of both sBCC and rtBCC.…”

“…[13][14][15] Despite the considerable advances that have been made on the understanding of BCC carcinogenesis, there is still a significant lack of information regarding genomic stability and epigenetic changes in this neoplasm, although a few studies have reported some data on comparative genomic hybridization in BCCs. [16][17][18] In addition, most studies have addressed mainly BCCs that occur as a result of UV exposure or in the context of Gorlin syndrome, and it is not known whether tumors in which the main underlying risk factor is ionizing radiation display similar carcinogenic mechanisms or if there are significant differences. This knowledge may have future implication in the diagnosis and management of these patients.…”

Metastatic basal cell carcinoma: complete remission under vismodegib

“…The therapeutic effect is based on selective inhibition of the hedgehog signaling pathway. Up to 85 % of BCCs have a mutation in the sonic hedgehog pathway [4]. The ERIVANCE BCC licensing studies comprised 104 patients with advanced BCC.…”