Cancer Genetics Laboratory
Publication highlights include: › Dahia PLM, Clifton-Bligh R, Gimenez- Roqueplo AP, Robledo M, Jimenez C. HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: Metastatic pheochromocytomas and paragangliomas: proceedings of the MEN2019 workshop. Endocr Relat Cancer. 2020 Aug;27(8):T41-T52. doi: 10.1530/ERC- 19-0435. PMID: 32069214; PMCID: PMC7334096 › Dwight T, Kim E, Bastard K, Benn DE, Eisenhofer G, Richter S, Mannelli M, Rapizzi E, Prejbisz A, Pęczkowska M, Pacak K, Clifton-Bligh R. Functional significance of germline EPAS1 variants. Endocr Relat Cancer. 2021 Feb;28(2):97-109. doi: 10.1530/ERC-20-0280. PMID: 33300499; PMCID: PMC7989857 › Seabrook AJ, Harris JE, Velosa SB, Kim E, McInerney-Leo AM, Dwight T, Hockings JI, Hockings NG, Kirk J, Leo PJ, Love AJ, Luxford C, Marshall M, Mete O, Pennisi DJ, Brown MA, Gill AJ, Hockings GI, Clifton-Bligh RJ, Duncan EL. Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5? J Clin Endocrinol Metab. 2021 Mar 25;106(4):1163- 1182. doi: 10.1210/clinem/dgaa957. PMID: 33367756 › Thompson LDR, Gill AJ, Asa SL, Clifton-Bligh RJ, de Krijger RR, Kimura N, Komminoth P, Lack EE, Lenders JWM, Lloyd RV, Papathomas TG, Sadow PM, Tischler AS. Data set for the reporting of pheochromocytoma and paraganglioma: explanations and recommendations of the guidelines from the International Collaboration on Cancer Reporting. Hum Pathol. 2021 Apr;110:83-97. doi: 10.1016/j.humpath.2020.04.012. Epub 2020 May 11. PMID: 32407815; PMCID: PMC7655677
The cancer genetics laboratory, based at RNSH, focuses on hereditary endocrine tumour syndromes. The diagnostic laboratory is NATA-accredited for genetic testing and is a main referral laboratory for multiple endocrine neoplasia syndromes. In 2020, five PhD students worked with the laboratory, on the projects including: › Prevalence and penetrance of SDHB disease › New treatments for metastatic phaeochromocytoma › FOXE1 and TERT – developmental origins of thyroid cancer
› Thyroid toxicity from immunotherapies › Improving radioactive iodine choices in thyroid cancer
The other ongoing research projects included the study of telomerase regulation in thyroid cancer, molecular mechanisms of SDH (succinate dehydrogenase) deficiency in phaeochromocytomas, and the Australasian SDH Consortium study. Key research projects include: › Dr Chris Muir and Dr Ayanthi Wijewardene were recognised as finalists for Bryan Hudson Prize Session, hosted by the Endocrine Society of Australia 2020 › Associate Professor Rory Clifton-Bligh was invited as a speaker at the Asia Oceania Congress of Endocrinology (AOCE-SICEM), Seoul, Korea (virtual) in October 2020 › Dr Trish Dwight was awarded a Perpetual IMPACT Philanthropy Program grant for a project to help uncover genetic drivers for rare neuroendocrine tumours, the ‘Discovery of new genes in phaeochromocytoma and paraganglioma’
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RESEARCH ANNUAL REPORT 2020
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