Publications by authors named "Melissa Soucy"
Background: Meningiomas are the most common intracranial tumors. Recent advancements in the genetic profiling of tumors have allowed information including DNA copy number analysis, mutational analysis, and RNA sequencing to be more frequently reported, in turn allowing better characterization of meningiomas. In recent years, analysis of tumor methylomes that reflects both cell-origin methylation signatures and somatically acquired DNA methylation changes has been utilized to better classify meningiomas with great success.
View Article and Find Full Text PDFWhole transcriptome sequencing (RNA-Seq) has gained prominence for the detection of fusions in solid tumors. Here, we describe the development and validation of an in-house RNA-Seq-based test system (FusionSeq™ 2.0) for the detection of clinically actionable gene fusions, in formalin-fixed paraffin-embedded (FFPE) specimens, using seventy tumor samples with varying fusion status.
View Article and Find Full Text PDFArticle Synopsis
- - The study analyzed 95 gynecologic cancer cases using The JAX ActionSeq™ NGS panel to explore molecular features and how they relate to clinical outcomes for precision medicine.
- - Researchers found 146 unique clinically significant genetic variants across various cancer-related genes, with TP53 and PTEN being the most frequently mutated.
- - The findings emphasize the role of specific mutations in gynecologic cancers, especially those related to DNA damage response, which could inform targeted therapies like PARP inhibitors.
The World Health Organization (WHO) has defined more than 130 distinct central nervous system (CNS) tumor entities, of which glioblastoma is the most fatal primary brain tumor. However, the correlation of the molecular signatures of glioblastoma with clinical significance for precision medicine is not well-known. How, and to what extent these variants may affect clinical decision making remains uncertain.
View Article and Find Full Text PDFObjective: The study aimed to retrospectively evaluate the positive yield rate of a custom 212-gene next-generation sequencing (NGS) panel, the JAX ActionSeq™ assay, used in molecular profiling of solid tumors for precision medicine.
Methods: We evaluated 261 cases tested over a 24-month period including cancers across 24 primary tissue types and report on the mutation yield in these cases.
Results: Thirty-three of the 261 cases (13%) had no detectable clinically significant variants.