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Novel <i>ATM</i> Gene c.5644 C > T (p.Arg1882*) Variant Detected in a Patient with Pancreatic Adenocarcinoma and Two Primary Non-Small Cell Lung Adenocarcinomas: A Case Report
oleh: Abed A. Aljamal, Mohamad K. Elajami, Ephraim H. Mansour, Hisham F. Bahmad, Ana Maria Medina, Mike Cusnir
| Format: | Article |
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| Diterbitkan: | MDPI AG 2022-12-01 |
Deskripsi
Ataxia-telangiectasia is an autosomal recessive disorder that usually manifests in childhood due to mutations in the Ataxia-Telangiectasia Mutated (<i>ATM</i>) gene. It is believed that there is an association between this gene mutation/polymorphism and cancer risk, including breast, lung, and pancreatic cancers. We report a rare case of a 69-year-old woman who developed three different primary cancers, including non-small cell lung cancer (NSCLC) in both lungs and pancreatic adenocarcinoma, and was later found to have a rarely reported variant mutation in the <i>ATM</i> gene, namely Exon 39, c.5644 C > T. We hypothesize that the <i>ATM</i> gene, c.5644 C > T mutation could be a plausible contributor in the pathogenesis of these three cancers. This hypothesis has yet to be validated by larger studies that focus on a mechanistic approach involving DNA repair genes such as the <i>ATM</i>. More importantly, this paves the way to developing new patient-specific targeted therapies and inaugurating precision medicine as a cornerstone in cancer therapeutics.