Article
Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours.
European journal of endocrinology - 1 May 2017
De Sousa Sunita M C, McCabe Mark J, Wu Kathy, Roscioli Tony, Gayevskiy Velimir, Brook Katelyn, Rawlings Lesley, Scott Hamish S, Thompson Tanya J, Earls Peter, Gill Anthony J, Cowley Mark J, Dinger Marcel E, McCormack Ann I
Abstract excerpt
OBJECTIVE: Familial pituitary tumour syndromes (FPTS) account for 5% of pituitary adenomas. Multi-gene analysis via next-generation sequencing (NGS) may unveil greater prevalence and inform clinical care. We aimed to identify germline variants in selected patients with pituitary adenomas using a targeted NGS panel. DESIGN: We undertook a nationwide cross-sectional study of patients with pituitary adenomas with...
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