pole gene mutation

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    pole gene mutation

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    About Mutations in the POLE Gene - Memorial Sloan Kettering Cancer Center

    Jul 17, 2023 · If you have a mutation in the POLE gene, this means you have a condition called Polymerase Proofreading-Associated Polyposis (PPAP) syndrome. PPAP syndrome increases your risk of developing polyps (growths of tissue) in your colon and rectum.

    Clinical and Molecular Characterization of POLE Mutations as …

    We present a clinicopathologic analysis of patients with advanced cancers harboring POLE mutations, the pattern of co-occurring mutations, and their response to ICI therapy within the context of mutation pathogenicity.

    The game-changing impact of POLE mutations in oncology—a …

    This review addresses the critical role of POLE mutations in gynecologic oncology and oncology in general, focusing on definitions, variants, underlying pathogenic mechanisms, upcoming developments in the field, and the clinic behavior associated with such mutations.

    PATIENT & CAREGIVER EDUCATION About Mutations in …

    What is my cancer risk if I have a POLE mutation? If you have a mutation in the POLE gene, this means you have a condition called Polymerase Proofreading-Associated Polyposis (PPAP) syndrome. PPAP syndrome increases your risk of developing polyps (growths of tissue) in your colon and rectum.

    POLE - My Cancer Genome

    Polymerase (DNA directed), epsilon, catalytic subunit (POLE) is a gene that encodes a protein that is a catalytic component of DNA polymerase epsilon. The enzymatic protein functions in DNA repair and chromosomal DNA replication.

    The Clinical and Pathological Characteristics of POLE-Mutated ...

    Endometrial cancer shows high histological and molecular heterogeneity. The POLE mutation is a significant molecular alteration in endometrial cancer, leading to the identification of a specific subtype known as POLE -mutated endometrial cancer.

    POLE Mutation Analysis, Next-Generation Sequencing, Tumor

    This test uses formalin-fixed paraffin-embedded tissue or cytology slides to assess for mutations involving the POLE gene known to be associated with a variety of tumor types, including endometrial, ovarian, lung, and colorectal cancers, and diffuse glioma.

    Pathology Outlines - POLD1 / POLE

    Jul 20, 2022 · Understanding the cancer predisposing syndrome caused by defective POLE and POLD1. Which of the following is true about the POLE gene? Which of the following is associated with POLE / POLD1 mutation?

    Interpretation of somatic POLE mutations in endometrial carcinoma

    Pathogenic somatic missense mutations within the DNA polymerase epsilon (POLE) exonuclease domain define the important subtype of ultramutated tumours ('POLE-ultramutated') within the novel molecular classification of endometrial carcinoma (EC).

    Evaluation of POLE and POLD1 Mutations as Biomarkers for …

    Oct 1, 2019 · In this study, we conducted a combined analysis using a large data set and found that POLE/POLD1 mutations are promising potential predictive biomarkers for positive ICI outcomes. All the patients and mutation data were selected from the cBioPortal database (https://www.cbioportal.org).