TP53 Sanger sequencing for osteosarcoma in .ab1 files

Osteosarcoma (OS) is the most common malignant bone tumor affecting adolescents and young adults. The detection of cancer-related genetic alterations has a growing impact to guide diagnosis, prognosis, and targeted therapies. In this study, Sanger sequencing was performed to investigate somatic and germline <i>TP53</i> mutations (exons 4-8) in an adolescent patient with OS. No PCR products for <i>TP53</i> exon 5 were detected in the tumor sample by PCR analysis prior to Sanger sequencing, suggesting a significant deletion in this exon. Sanger sequencing analysis revealed the missense variant <i>TP53</i> c.712T&gt;A (p.Cys238Ser) in tumor tissue sample and the <i>TP53 </i>c.215C&gt;G (p.Pro72Arg) germline missense variant was identified in the peripheral blood sample. Taken together, these findings reinforce the idea that <i>TP53</i> mutations represent key oncogenic drivers in OS patients.