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  • Human CASP8*1 allele is a variant form of the CASP8 gene which is located within 2q33-q34 and is approximately 54 kb in length. The wild-type allele, which encodes caspase-8 protein, is involved in apoptosis regulation. CASP8*1 allele exhibits a SNP (c.1207G>C) that results in a D302H coding change, which may reduce the activity of the encoded protein. This variant may reduce the incidence of breast cancer in subjects who carry this allele.
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