Background Many initiatives have been introduced in the past two decades to improve
clinical effectiveness and thereby patient care. Foremost among these have been clinical …

Succinate dehydrogenase B (SDHB) and D (SDHD) subunit gene mutations predispose to
adrenal and extraadrenal pheochromocytomas, head and neck paragangliomas (HNPGL) …

Heritable factors account for approximately 35% of colorectal cancer (CRC) risk, and almost
30% of the population in the UK have a family history of CRC. The quantification of an …

Background Germline pathogenic variants in SDHB/SDHC/SDHD are the most frequent
causes of inherited phaeochromocytomas/paragangliomas. Insufficient information …

Background Lynch syndrome is a rare familial cancer syndrome caused by pathogenic
variants in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2, that cause …

Context: Pheochromocytoma/paraganglioma occurs almost exclusively after paternal
transmission of succinate dehydrogenase D (SDHD) mutations. This parent-of-origin effect …

OBJECTIVE To establish national clinical guidelines and integrated care pathways for five
conditions (tuberous sclerosis (TS), Huntington's disease (HD), myotonic dystrophy (MD) …

Background Catecholamine-producing neuroendocrine tumours are found in chromaffin
cells of the adrenal medulla (phaeochromocytoma) or extra-adrenal paraganglia …

In Scotland a national audit project has been undertaken to devise evidence-based
guidelines for the clinical management of patients with tuberous sclerosis (TS), a dominantly …

We describe a child with advanced, metastatic, inoperable medullary carcinoma of thyroid
associated with multiple endocrine neoplasia 2B and rearranged during transfection …