Publications by authors named "Amy Guimaraes-Young"

Article Synopsis
  • The study utilizes findings from The Cancer Genome Atlas and a specific algorithm to classify endometrial carcinoma into four distinct subgroups based on molecular and immunohistochemical characteristics.
  • Over the first 13 months, 188 tumors were analyzed through a combination of IHC and a next-generation sequencing (NGS) assay focused on 56 genes, leading to classification into the following subgroups: POLE-mutated (5.3%), mismatch repair deficient (27.7%), no specific molecular profile (45.7%), and p53 abnormal (21.3%).
  • The NGS analysis uncovered further distinctions among these subgroups, such as differences in pathway activation and mutation frequencies, resulting in a comprehensive testing protocol aimed
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The phosphatidylinositol 3-kinase (PI3K) pathway is an intracellular pathway activated in response to progrowth signaling, such as human epidermal growth factor receptor 2 (HER2) and other kinases. Abnormal activation of PI3K has long been recognized as one of the main oncogenic drivers in breast cancer, including HER2-positive (HER2+) subtype. Somatic activating mutations in the gene encoding PI3K alpha catalytic subunit () are present in approximately 30% of early-stage HER2+ tumors and drive therapeutic resistance to multiple HER2-targeted agents.

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The Sleeping Beauty (SB) transposon insertional mutagenesis system offers a streamlined approach to identify genetic drivers of cancer. With a relatively random insertion profile, SB is uniquely positioned for conducting unbiased forward genetic screens. Indeed, SB mouse models of cancer have revealed insights into the genetics of tumorigenesis.

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The importance of canonical Wnt signaling to murine uterine development is well established. Mouse models in which uterine-specific Wnt ligands, β-catenin, or Lef1 are disrupted result in failure of postnatal endometrial gland development. Sox17 is a transcription factor characterized in numerous tissues as an antagonist of Wnt signaling.

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