• Publications
  • Influence
Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1).
TLDR
It is recommended that MEN1 patients and their families should be cared for by multidisciplinary teams comprising relevant specialists with experience in the diagnosis and treatment of patients with endocrine tumors.
Guidelines for diagnosis and therapy of MEN type 1 and type 2.
TLDR
The specific RET codon mutation correlates with the MEN2 syndromic variant, the age of onset of M TC, and the aggressiveness of MTC; consequently, that mutation should guide major management decisions, such as whether and when to perform thyroidectomy.
Guidelines for the management of thyroid cancer
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome
TLDR
The findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT–JT and in development of some sporadic parathyroid tumors.
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene
TLDR
The clinical aspects and molecular genetics of MEN1 are reviewed together with the reported 1,336 mutations, which are likely to disrupt the interactions of menin with other proteins and thereby alter critical events in cell cycle regulation and proliferation.
Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs)
These guidelines update previous guidance published in 2005. They have been revised by a group who are members of the UK and Ireland Neuroendocrine Tumour Society with endorsement from the clinical
Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours
TLDR
All patients should be evaluated for second endocrine tumours and possibly for other gut cancers (grade C) and all patients with sporadic or familial bronchial or gastric carcinoid should have a family history evaluation and consideration of testing for germline MEN1 mutations.
Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4)
  • R. Thakker
  • Biology, Medicine
    Molecular and Cellular Endocrinology
  • 5 April 2014
Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop.
TLDR
It is concluded that reference ranges should be established for serum PTH in vitamin D-replete healthy individuals and genetic testing has the potential to be useful in the differential diagnosis of familial hyperparathyroidism or hypercalcemia.
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