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  1. Article: 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

    Aljamal, Abed A / Elajami, Mohamad K / Mansour, Ephraim H / Bahmad, Hisham F / Medina, Ana Maria / Cusnir, Mike

    Diseases (Basel, Switzerland)

    2022  Volume 10, Issue 4

    Abstract: 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 ... ...

    Abstract 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.
    Language English
    Publishing date 2022-12-01
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2720869-2
    ISSN 2079-9721
    ISSN 2079-9721
    DOI 10.3390/diseases10040115
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Management of atrial fibrillation in patients taking targeted cancer therapies.

    Asnani, Aarti / Manning, Anastasia / Mansour, Moussa / Ruskin, Jeremy / Hochberg, Ephraim P / Ptaszek, Leon M

    Cardio-oncology (London, England)

    2017  Volume 3, Page(s) 2

    Abstract: Atrial fibrillation (AF) is frequently observed in patients being treated for cancer and can lead to increased morbidity and mortality in this population. With the use of newer, targeted cancer therapies, several drug-drug interactions have emerged that ... ...

    Abstract Atrial fibrillation (AF) is frequently observed in patients being treated for cancer and can lead to increased morbidity and mortality in this population. With the use of newer, targeted cancer therapies, several drug-drug interactions have emerged that complicate the use of antiarrhythmic drugs (AADs) in patients with active malignancy. Moreover, specific targeted therapies such as ibrutinib may contribute directly to the development of AF. The decision to pursue systemic anticoagulation can be challenging in patients with malignancy due to a number of factors, including the need for frequent procedures, the presence of malignancy-related risk factors for bleeding, and limited data regarding the safety of the novel oral anticoagulants (NOACs) in cancer patients. This review describes the challenges associated with AF management in patients with cancer and highlights a number of important drug-drug interactions that can impact patient management.
    Language English
    Publishing date 2017-03-09
    Publishing country England
    Document type Journal Article ; Review
    ISSN 2057-3804
    ISSN (online) 2057-3804
    DOI 10.1186/s40959-017-0021-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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