Researchers at St. Jude developed a method for identifying individuals predisposed to cancer by detecting variants that lower the expression or inactivate the function of XAF-1 (X-linked inhibitor of apoptosis-associated factor 1). While studying patients with germline mutations in TP53, they noticed that patients who also harbored XAF-1 variants were more likely to develop different types of cancers and multiple tumors. XAF-1 genotyping is particularly important for carriers of germline TP53 variants, particularly the Brazilian population, in which both mutations often occur. Individuals with these mutations can benefit from close monitoring, genetic counseling and surveillance. These XAF-1 alterations can be easily detected by PCR-based assays, or adapted to include Sanger sequencing, TaqMan genotyping and SNP analysis, etc. We are seeking a partner to move this diagnostic assay forward toward commercialization. A patent application was filed and is available to interested parties under confidentiality.
XAF-1, TP53 mutations, cancer, diagnostic, therapeutics, sarcoma, breast, adrenal, gastric, colon, lung, melanoma, neuroblastoma, epigenetic, assay, sequencing, genotyping and SNP analysis
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