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Articles by Jane Chalker
PLAG1‐Rearranged Fibromyxoid and Lipomatous Neoplasms in Children and Adults: Separate Entities or a Morphological Spectrum?
1 Introduction PLAG1 (pleomorphic adenoma gene 1) is located on chromosome band 8q12 and was first described in pleomorphic adenomas of the salivary glands [1]. It belongs to the PLAG family of transcription factors along with PLAG-like 1 and PLAG-like 2 genes. Rearrangement of PLAG1 is described in lipoblastoma (LB), myoepitheliomas/mixed tumors, uterine myxoid mesenchymal tumors, and the more recently described pediatric fibromyxoid soft tissue tumor [2-6].
Hyalinised fibrocartilaginous tumour of bone: probable new histological entity with FOSL1 gene rearrangement
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Decision making for health‐related research outcomes that alter diagnosis: A model from paediatric brain tumours
Key Points The question of how to handle clinically actionable outcomes from retrospective research studies is poorly explored. We found that research findings relating to patients who are still alive may lead to a significant change in patient management and warrant feeding back to clinical teams. We developed a decision-making framework from which to assess future diagnostic research findings and assess clinical actionability.
Clinical application of tumour in normal contamination assessment from whole genome sequencing
New Results Jonathan Mitchell, Jack Bartram, Susan Walker, Jane Chalker, Magdalena Zarowiecki, Salvatore Milite, Genomics England Research Consortium, Alona Sosinsky, View ORCID ProfileGiulio Caravagna doi: https://doi.org/10.1101/2022.03.09.483623 Abstract Bioinformatics pipelines designed for paired analysis of tumour and matched normal samples use germline variants detected from normal tissue samples to identify bona fide tumour somatic mutations.
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