Article
Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.
Clinical endocrinology - 1 Oct 2022
Winzeler Bettina, Tufton Nicola, S Lim Eugenie, Challis Ben G, Park Soo-Mi, Izatt Louise, Carroll Paul V, Velusamy Anand, Hulse Tony, Whitelaw Benjamin C, Martin Ezequiel, Rodger Fay, Maranian Melanie, Clark Graeme R, A Akker Scott, Maher Eamonn R, Casey Ruth T
Abstract excerpt
OBJECTIVES: Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours with malignant potential and a hereditary basis in almost 40% of patients. Germline genetic testing has transformed the management of PPGL enabling stratification of surveillance approaches, earlier diagnosis and predictive testing of at-risk family members. Recent studies have identified somatic mutations in a further subset...
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