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    BIOMARKER:

    FANCL mutation

    i
    Entrez ID:
    55120
    Related tests:
    3ms
    Whole genome and transcriptome analysis of pancreatic acinar cell carcinoma elucidates mechanisms of homologous recombination deficiency and unravels novel relevant fusion events. (PubMed, Pathol Res Pract)
    Additionally, we first describe structural variants in PACC, including BRCA1::TRIM47 fusion and another variant impacting FANCC, both events related to HRD, and we also identify alterations in the mitogen-activated protein kinase (MAPK) pathway, including RAF1 duplication as well as novel BRAF::SORBS2 and MAP7D2::SND1 gene fusions, offering potential targets for therapy. Our study underscores the importance of genome and transcriptome-wide profiling of PACC, to help guide personalized treatment strategies to improve patient outcomes.
    Journal • BRCA Biomarker • PARP Biomarker
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    BRAF (B-raf proto-oncogene) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • FANCL (FA Complementation Group L) • SND1 (Staphylococcal Nuclease And Tudor Domain Containing 1) • FANCC (FA Complementation Group C) • TRIM47 (Tripartite Motif Containing 47)
    |
    HRD • FANCL mutation • BRCA1 fusion