Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP).
نویسندگان
چکیده
A Villablanca, A Calender, L Forsberg, A Höög, J-D Cheng, D Petillo, C Bauters, K Kahnoski, T Ebeling, P Salmela, A-L Richardson, L Delbridge, A Meyrier, C Proye, J D Carpten, B T Teh, B G Robinson, C Larsson . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors.
We investigated the involvement of the HRPT2 gene by loss of heterozygosity analysis and direct sequencing in a kindred with hyperparathyroidism-jaw tumor syndrome (HPT-JT) and three kindreds with familial isolated primary hyperparathyroidism (FIHP). Seven patients with sporadic parathyroid cancers and 35 with parathyroid adenomas with no family history of primary hyperparathyroidism or HPT-JT ...
متن کاملHRPT2 mutations are associated with malignancy in sporadic parathyroid tumours.
BACKGROUND Hyperparathyroidism is a common endocrinopathy characterised by the formation of parathyroid tumours. In this study, we determine the role of the recently identified gene, HRPT2, in parathyroid tumorigenesis. METHODS Mutation analysis of HRPT2 was undertaken in 60 parathyroid tumours: five HPT-JT, three FIHP, three MEN 1, one MEN 2A, 25 sporadic adenomas, 17 hyperplastic glands, tw...
متن کاملFamilial isolated primary hyperparathyroidism due to HRPT2 mutation.
Primary hyperparathyroidism is a common endocrine disorder that is mostly caused by solitary tumors within the parathyroid glands. Characterized by early debut and higher frequency of multiple parathyroid masses, familial forms of primary hyperparathyroidism are caused by the already known mutations of: menin (MEN1 syndrome), RET proto-oncogene (MEN2 syndrome), HRPT2-parafibromin (hyperparathyr...
متن کاملClinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.
CDC73 (HRPT2) germline mutations are responsible for more than half of cases of hyperparathyroidism-jaw tumor syndrome (HPT-JT) and for a subset of familial isolated HPT (FIHP). We performed a clinical, genetic, and histopathologic study in three unrelated Italian kindreds with HPT-JT and FIHP. We identified three germline inactivating mutations of the CDC73 gene in the probands and affected pa...
متن کاملGenetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management.
OBJECTIVE Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete expression of a syndromic form of familial primary hyperparathyroidism [multiple endocrine neoplasia type 1 (MEN 1), hyperparathyroidism-jaw tumour syndrome (HPT-JT) or familial hypocalciuric hypercalcaemia (FHH)] or still unrecognized causes. Design Genetic analyses of MEN1, HRPT2 and CASR genes in...
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عنوان ژورنال:
- Journal of medical genetics
دوره 41 3 شماره
صفحات -
تاریخ انتشار 2004