Basal cell carcinoma

Definition:

Cancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare familial syndrome basal cell nevus syndrome (BCNS, or Gorlin syndrome) that predisposes to development of BCC. In addition, there is strong epidemiological and genetic evidence that demonstrates UV exposure as a risk factor of prime importance. The development of basal cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes. At a cellular level, sonic hedgehog signaling promotes cell proliferation. Mutations in TP53 are also found with high frequency (>50%) in sporadic BCC.

References:

[1]. E Friedman, et al. Nonsense mutations in the C-terminal SH2 region of the GTPase activating protein (GAP) gene in human tumours. Nat Genet. 1993 Nov;5(3):242-7. [Content Brief]

[2]. J Xie, et al. Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature. 1998 Jan 1;391(6662):90-2. [Content Brief]

[3]. Kenneth Y Tsai, et al. The genetics of skin cancer. Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):82-92. [Content Brief]

[4]. Leela Daya-Grosjean, et al. Sonic hedgehog signaling in basal cell carcinomas. Cancer Lett. 2005 Jul 28;225(2):181-92. [Content Brief]

[5]. M R Gailani, et al. The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nat Genet. 1996 Sep;14(1):78-81. [Content Brief]

[6]. Paul A Khavari, et al. Modelling cancer in human skin tissue. Nat Rev Cancer. 2006 Apr;6(4):270-80. [Content Brief]

[7]. Simon N Stacey, et al. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. Nat Genet. 2011 Sep 25;43(11):1098-103. [Content Brief]

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