Louise Izatt

CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes

Charlie F Rowlands, Subin Choi, Sophie Allen, Zeid Kuzbari et autres

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RC6.1 - ECE_3949 - Combining bulk, single nuclei and single cell RNA sequencing of phaeochromocytomas and paragangliomas to gain insights into metastatic potential

Mark Quinn, Dimitria Brempou, Harit Kohli, Bertille Montibus et autres

Abstract Background Phaeochromocytomas and paragangliomas (PPGLs) often display a unique pattern of metastatic spread whereby, following initial tumour resection, there is a prolonged period of remission before recurrence arises with metastatic spread. Treatment options for metastatic PPGLs are limited and outcomes are …

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OC7.6 - ECE_2870 - SOX2-positive cells in pheochromocytoma and paraganglioma: implications for tumour initiation and maintenance

Yasmine Kemkem, Mark Quinn, Bence Kover, Alice Santambrogio et autres

Abstract Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumours which arise from neural crest–derived chromaffin cells of the adrenal medulla and extra-adrenal paraganglia, respectively. Metastatic disease occurs in up to 40% of PPGLs and is associated with a median overall survival …

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Phaeochromocytomas and paragangliomas harbour tumour-initiating SOX2+ stem cells

Yasmine Kemkem, Mark Quinn, Bence Kövér, Alice Santambrogio et autres

Phaeochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumours that arise in the neural crest (NC)-derived adrenal medulla and the paraganglia, respectively. Approximately 10-15% of patients with PCCs and 35-40% with PGLs go on to develop metastatic disease, leading to a reported …

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Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer

Daniel R. Barnes, Jonathan P. Tyrer, Joe Dennis, Goska Leslie et autres

Abstract Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We meta-analyzed >22 million variants for 398,238 women from the Ovarian Cancer Association Consortium (OCAC), UK Biobank (UKBB) and Consortium of Investigators of Modifiers of BRCA1 / BRCA2 (CIMBA) …

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A single centre experience in paediatric cases of pheochromocytomas and paragangliomas

Dhanya Soodhana, Alina Oprea, Louise Izatt, Christina Wei

Kinome profiling reveals pathogenic variant specific protein signalling networks in MEN2 children with Medullary Thyroid Cancer

Beatrice Rix, Rakhee Chauhan, Seyedeh Zahra Masoumi, Eva Grönroos et autres

Multiple Endocrine Neoplasia Type 2 (MEN2) is an autosomal dominant disease caused by pathogenic variants in the receptor tyrosine kinase RET, with strong genotype-phenotype correlations. The development and progression of these tumours are not always predictable even within families with the same …

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Using parenclitic networks on phaeochromocytoma and paraganglioma tumours provides novel insights on global DNA methylation

Dimitria Brempou, Bertille Montibus, Louise Izatt, Cynthia L. Andoniadou et autres

Despite the prevalence of sequencing data in biomedical research, the methylome remains underrepresented. Given the importance of DNA methylation in gene regulation and disease, it is crucial to address the need for reliable differential methylation methods. This work presents a novel, transferable …

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Genotes for clinicians - a genomic testing resource for paediatric endocrinologists

Sinead McGlacken-Byrne, Shailesh Gohil, Louise Izatt, Márta Korbonits et autres

Using a combination of bulk and single cell RNA sequencing to identify transcriptomic differences in metastatic vs non-metastatic phaeochromoctyomas and paragangliomas

Mark Quinn, Dimitria Brempou, Louise Izatt, Paul Carroll et autres

Adaptor protein 2 sigma subunit ( AP2S1 ) variants associated with neurodevelopmental disorders

Mark Stevenson, Asha L. Bayliss, Victoria Stokes, Katherine English et autres

Abstract Adaptor-Related Protein Complex 2 Sigma-1 Subunit ( AP2S1 ) encodes AP2σ2, which forms part of the heterotetrameric AP2 complex that is composed of α, β2, μ2, and σ2 subunits and has a pivotal role in clathrin-mediated endocytosis (CME) 1–3 . AP2S1 …

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A rare case of hypoxia and metastatic multifocal paraganglioma

Sheela Sathyanarayan, Safa ElGhazoini, Gemma White, Louise Izatt et autres