Basal Cell Carcinoma, Susceptibility To, 7

<p>A number sign (#) is used with this entry because susceptibility to basal cell carcinoma (BCC7) is influenced by variation in the TP53 gene (191170) on chromosome 17p13.1.p><p>For a general phenotypic description and a discussion of genetic heterogeneity of basal cell carcinoma, see BCC1 (605462).p> Molecular Genetics <p>To identify risk variants for cutaneous basal cell carcinoma, Stacey et al. (2011) performed a genomewide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. They imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222C (191170.0041) (odds ratio (OR) = 2.36, p = 5.2 x 10(-17)), which has a frequency of 0.0192 in the Icelandic population. Stacey et al. (2011) then confirmed this association in non-Icelandic samples (OR = 1.75, p = 0.0060; overall OR = 2.16, p = 2.2 x 10(-20)). rs78378222 is in the 3-prime untranslated region of TP53 (191170) and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3-prime-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (see 176807) (OR = 1.44, p = 2.4 x 10(-6)), glioma (OR = 2.35, p = 1.0 x 10(-5)), and colorectal adenoma (see 608812) (OR = 1.39, p = 1.6 x 10(-4)). There was no observed effect for breast cancer (see 114480). p>