{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T04:50:07Z","timestamp":1760244607522,"version":"build-2065373602"},"reference-count":37,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diseases"],"abstract":"<jats:p>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 &gt; T. We hypothesize that the ATM gene, c.5644 C &gt; 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.<\/jats:p>","DOI":"10.3390\/diseases10040115","type":"journal-article","created":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T05:03:18Z","timestamp":1669870998000},"page":"115","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel ATM Gene c.5644 C &gt; T (p.Arg1882*) Variant Detected in a Patient with Pancreatic Adenocarcinoma and Two Primary Non-Small Cell Lung Adenocarcinomas: A Case Report"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8293-9772","authenticated-orcid":false,"given":"Abed A.","family":"Aljamal","sequence":"first","affiliation":[{"name":"Mount Sinai Medical Center, Department of Internal Medicine, Miami Beach, FL 33140, USA"},{"name":"Department of Medicine, Division of Hematology Oncology, Medical University of South Carolina, Charleston, SC 29425, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamad K.","family":"Elajami","sequence":"additional","affiliation":[{"name":"Mount Sinai Medical Center, Department of Internal Medicine, Miami Beach, FL 33140, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ephraim H.","family":"Mansour","sequence":"additional","affiliation":[{"name":"Mount Sinai Medical Center, Department of Internal Medicine, Miami Beach, FL 33140, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3799-2595","authenticated-orcid":false,"given":"Hisham F.","family":"Bahmad","sequence":"additional","affiliation":[{"name":"The Arkadi M. Rywlin M.D. Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Maria","family":"Medina","sequence":"additional","affiliation":[{"name":"The Arkadi M. Rywlin M.D. Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USA"},{"name":"Department of Translational Medicine, Herbert Wertheim College of Medicine, Florida International University, Miami, FL 33199, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mike","family":"Cusnir","sequence":"additional","affiliation":[{"name":"Mount Sinai Medical Center, Department of Internal Medicine, Division of Hematology and Oncology, Miami Beach, FL 33140, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/s13023-016-0543-7","article-title":"Ataxia telangiectasia: A review","volume":"11","author":"Wright","year":"2016","journal-title":"Orphanet J. 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