Challenges Associated With the Identification of Germline Variants on Myeloid Malignancy Genomic Profiling—A Singaporean Experience

    October 2023 in “ Frontiers in Oncology
    Hui‐Lin Chin, Joyce Ching Mei Lam, Dheepa Christopher, Poon Limei Michelle, Benedict Yan Junrong
    TLDR Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
    The document discusses the challenges in identifying germline variants during genomic profiling of myeloid malignancies, based on a Singaporean experience. It highlights the importance of distinguishing between somatic and germline variants for treatment planning, family health surveillance, and donor selection for bone marrow transplants. The study includes three case studies: a child with juvenile myelomonocytic leukemia and a germline PTPN11 variant, a 33-year-old male with persistent eosinophilia and a germline CBL variant, and a 38-year-old male with aplastic anemia and a germline DDX41 variant. The document emphasizes the need for collaboration between clinicians and geneticists, genetic counseling, and pre-test counseling and consent for somatic gene panels. It also suggests novel computational methods for differentiating germline from somatic variants as cost-effective alternatives.
    Discuss this study in the Community →

    Related Community Posts Join

    6 / 1000+ results

    Similar Research

    5 / 1000+ results
      Abstracts

      research Abstracts

      2 citations, January 2019 in “Medizinische Genetik”
      The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
      Acne Syndromes and Mosaicism

      research Acne Syndromes and Mosaicism

      1 citations, November 2021 in “Biomedicines”
      Understanding how acne develops in different diseases could lead to new treatments.
      WNT Signaling in Disease

      research WNT Signaling in Disease

      144 citations, August 2019 in “Cells”
      The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
      The Genetics of Human Skin Disease

      research The Genetics of Human Skin Disease

      24 citations, October 2014 in “Cold Spring Harbor Perspectives in Medicine”
      Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.