Novel ATM 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

Ataxia-telangiectasia is an autosomal recessive disorder that usually manifests in childhood due to mutations in the Ataxia-Telangiectasia Mutated (ATM) gene. It is believed that there is an association between this gene mutation/polymorphism and cancer risk, including breast, lung, and pancreatic c...

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Bibliographic Details
Published in:Diseases 2022-12, Vol.10 (4), p.115
Main Authors: Aljamal, Abed A, Elajami, Mohamad K, Mansour, Ephraim H, Bahmad, Hisham F, Medina, Ana Maria, Cusnir, Mike
Format: Article
Language:English
Subjects:
Abdomen
Adenocarcinoma
Antigens
Ataxia
Ataxia telangiectasia mutated protein
ATM gene
Breast cancer
Cancer therapies
Case Report
Case reports
Children
Cholecystectomy
DNA repair
Gastrointestinal surgery
Gene polymorphism
Genes
Hepatectomy
Hereditary diseases
Kinases
lung adenocarcinoma
Lung cancer
Lymphatic system
Mutation
Non-small cell lung carcinoma
Pancreas
pancreatic adenocarcinoma
Pancreatic cancer
Pathogenesis
Point mutation
Precision medicine
Prostate
Small cell lung carcinoma
Tomography
Veins & arteries
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Summary:Ataxia-telangiectasia is an autosomal recessive disorder that usually manifests in childhood due to mutations in the Ataxia-Telangiectasia Mutated (ATM) 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 ATM gene, namely Exon 39, c.5644 C > T. We hypothesize that the ATM 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 ATM. More importantly, this paves the way to developing new patient-specific targeted therapies and inaugurating precision medicine as a cornerstone in cancer therapeutics.
ISSN:2079-9721
2079-9721
DOI:10.3390/diseases10040115