Searchable abstracts of presentations at key conferences in endocrinology

ea0005p117 | Endocrine Tumours and Neoplasia | BES2003

Parathyroid tumours harbour parafibromin somatic mutations, consistent with the Knudson 'two-hit' hypothesis

Cavaco B , Bradley K , Thakker R

Parathyroid tumours occurring in association with ossifying fibromas of the jaw are the hallmarks of the hyperparathyroidism-jaw tumour (HPT-JT) syndrome, which is inherited as an autosomal dominant trait. The HPT-JT gene, which is located on chromosome 1q25, consists of 17 exons and encodes a 531 amino acid protein named PARAFIBROMIN (Nature Genetics, in press). The observation of loss of heterozygosity (LOH) involving 1q25 in HPT-JT parathyroid tumours and the detection of i...

ea0005oc39 | Thyroid and Calcium | BES2003

Parafibromin germline mutations in patients with parathyroid tumours

Bradley K , Cavaco B , Besser G , Young A , Thakker R

Mutations of parafibromin, which is a 531 amino acid protein, are associated with the hyperparathyroidism-jaw tumour (HPT-JT) syndrome. HPT-JT is an autosomal dominant disease that is characterised by the occurrence of parathyroid tumours, which are commonly malignant, and ossifying fibromas of the jaw bones. To date 13 different inactivating germline mutations (3 nonsense, 9 frameshift and one missense altering the initiation codon) of PARAFIBROMIN have been identified in HPT...

ea0005p119 | Endocrine Tumours and Neoplasia | BES2003

Hyperparathyroidism-jaw tumour syndrome (HPT-JT) in Romany families from Portugal is due to a founder mutation of parafibromin

Cavaco B , Guerra L , Carvalho D , Bradley K , Harding B , Kennedy A , Santos M , Sobrinho L , Thakker R , Leite V

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disease characterised by the occurrence of parathyroid tumours, which are often carcinomas, and fibro-osseous tumours of the jaw bones. The HPT-JT gene is on chromosome 1q25 and consists of 17 exons that encode a 531 amino-acid protein, designated PARAFIBROMIN (Nature Genetics, in press). Thirteen heterozygous germline mutations that result in truncated or inactivated forms of PARAFIBROMIN have been ...

ea0004p63 | Endocrine tumours and neoplasia | SFE2002

Asymptomatic neuroendocrine pancreatic tumours associated with Multiple Endocrine Neoplasia type 1: what to do?

Monteiro M , Carvalho R , Cavaco B , Cardoso H , Castro R , Santos M , Costa M , Correia M , Ramos H

Background: The screening of patients and relatives for the presence of inactivating mutations of the MEN 1 gene, established quite accurately those for prospective detection of neoplasms. Active search for pancreatic lesions has increased the detection of neuroendocrine pancreatic tumours (NEPT) at early ages, most asymptomatic and with no signs of malignancy at diagnosis.Case Report: We describe one kindred where five members were identified as carrier...

ea0005p114 | Endocrine Tumours and Neoplasia | BES2003

Familial isolated primary hyperparathyroidism due to germline multiple endocrine neoplasia Type 1 (MEN1) mutations

Turner J , Pannett A , Kennedy A , Forbes S , Cavaco B , Bassett J , Cianferotti L , Harding B , Shine B , Flinter F , Maidment C , Trembath R , Thakker R

Primary hyperparathyroidism (HPT) is most frequently encountered as a non-familial disorder, but 10% of patients with primary HPT will have a hereditary form, which may occur as an isolated endocrinopathy or as part of a complex tumour syndrome such as multiple endocrine neoplasia type 1 (MEN 1) or type 2 (MEN 2), or the hereditary hyperparathyroidism-jaw tumour syndrome (HPT-JT). Familial isolated hyperparathyroidism (FIHP) is an autosomal dominant disorder characterised by u...