Genética del carcinoma medular de tiroides

Leboulleux, 2004, Medullary thyroid carcinoma, Clin Endocrinol (Oxf), 61, 299, 10.1111/j.1365-2265.2004.02037.x Weber, 2005, Germline variants within RET: clinical utility or scientific playtoy? [editorial], J Clin Endocrinol Metab, 90, 6334, 10.1210/jc.2005-2030 Hazard, 1959, Medullary (solid) carcinoma of the thyroid; a clinicopathologic entity, J Clin Endocrinol Metab, 19, 152, 10.1210/jcem-19-1-152 Kouvaraki, 2005, RET proto-oncogene: A review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors, Thyroid, 15, 531, 10.1089/thy.2005.15.531 Block, 1980, Clinical characteristics distinguishing hereditary from sporadic medullary thyroid carcinoma, Arch Surg, 115, 142, 10.1001/archsurg.1980.01380020012004 Tsuzuki, 1995, Spatial and temporal expression of the RET protooncogen product in embryonic, infant and adult rat tissues, Oncogene, 10, 191 Capes-Davis, 1999, Return of the native: deducing the normal function of the RET proto-oncogen, Curr Opin Endocrinol Diabetes, 6, 61, 10.1097/00060793-199902000-00011 Dvorakova, 2006, New multiple somatic mutations in the RET proto-oncogene associated with a sporadic medullary carcinoma, Thyroid, 16, 311, 10.1089/thy.2006.16.311 Zedenius, 1995, Mutations of codon 918 in the RET proto-oncogene correlate to poor prognosis in sporadic medullary thyroid carcinomas, J Clin Endocrinol Metab, 80, 3088, 10.1210/jc.80.10.3088 Gimm, 1999, Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation, Oncogene, 18, 1369, 10.1038/sj.onc.1202418 Ruiz, 2001, Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population, Clin Endocrinol (Oxf), 55, 399, 10.1046/j.1365-2265.2001.01328.x Elisei, 2004, RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population, J Clin Endocrinol Metab, 89, 3579, 10.1210/jc.2003-031898 Baumgartner-Parzer, 2005, Polymorphisms in exon 13 and intron 14 of the RET protooncogene: Genetic modifiers of medullary thyroid carcinoma?, J Clin Endocrinol Metab, 90, 6232, 10.1210/jc.2005-1278 Fernández, 2006, Analysis of the RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma, Thyroid, 16, 411, 10.1089/thy.2006.16.411 Cebrian, 2005, Polymorphisms in the initiators of RET (Rearranged during transfection) signaling pathway and susceptibility to sporadic medullary thyroid carcinoma, J Clin Endocrinol Metab, 90, 6268, 10.1210/jc.2004-2449 Borrego, 2002, Evaluation of germline sequence variants of GFRA1, GFRA2, and GFRA3 genes in a cohort of Spanish patients with sporadic medullary thyroid cancer, Thyroid, 12, 1017, 10.1089/105072502320908367 Brandi, 2001, Guidelines for diagnosis and therapy of MEN type 1 and type 2, J Clin Endocrinol Metab, 86, 5658, 10.1210/jc.86.12.5658 Eng, 1996, The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET Mutation Consortium Analysis, JAMA, 276, 1575, 10.1001/jama.1996.03540190047028 Mulligan, 1993, Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2, Nature, 363, 458, 10.1038/363458a0 Raue, 1994, Multiple endocrine neoplasia type 2. Clinical features and sreening, Endocrinol Metab Clin North Am, 23, 137, 10.1016/S0889-8529(18)30121-X Wohllk, 1996, Application of genetic screening information to the management of medullary thyroid carcinoma and multiple endocrine neoplasia type 2, Endocrinol Metab Clin North Am, 25, 1, 10.1016/S0889-8529(05)70310-8 Santoro, 1995, Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and MEN 2B, Science, 267, 381, 10.1126/science.7824936 Mise, 2006, Evaluation of potencial mechanisms underlying genotype-phenotype correlations in multiple endocrine neoplasia type 2, Oncogene, 25, 6637, 10.1038/sj.onc.1209669 Karga, 1998, Germ line mutation analysis in families with multiple endocrine neoplasia type 2 A or familial medullary thyroid carcinoma, Eur J Endocrinol, 139, 410, 10.1530/eje.0.1390410 Russel, 1995, Suppression by 1,25 (OH)2D3 of transcription of the bovine parathyroid hormone gen, Endocrinology, 117, 2114 Forga, 1999, Estudio genético del MEN 2A en Navarra, Relación genotipo-fenotipo. Endocrinología, 46, 164 Dvorakova, 2006, Double germline mutations in the RET proto-oncogen in MEN 2 A and MEN 2 B kindreds, Exp Clin Endocrinol Diabetes, 114, 192, 10.1055/s-2006-924071 Dvorakova, 2005, Exon 5 of the RET proto-oncogene: a newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg, J Endocrinol Invest, 28, 905, 10.1007/BF03345322 D’Aloiso, 2006, In vivo and in vitro characterization of a novel germline RET mutation associated with low-penetrant nonaggressive familial medullary thyroid carcinoma, J Clin Endocrinol Metab, 91, 754, 10.1210/jc.2005-2338 Chabre, 1992, Cutaneous lesion associated with multiple endocrine neoplasia type 2A: Lichen amyloidosis or nostalgia parethetica?, Henry Ford Hosp Med J, 40, 245 Wong, 1988, Friction amyloidosis, Int J Dermatol, 27, 302, 10.1111/j.1365-4362.1988.tb02357.x Verga, 2003, Frequent association between MEN 2A and cutaneous lichen amyloidosis, Clin Endocrinol (Oxf), 59, 156, 10.1046/j.1365-2265.2003.01782.x Ferrer, 1991, Primary localized cutaneous amyloidosis and familial medullary carcinoma, Clin Endocrinol (Oxf), 34435 Borrego, 1998, Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2 A and Hirschsprung disease, J Clin Endocrinol Metab, 83, 3361, 10.1210/jc.83.9.3361 Elisei, 2004, Identification of a novel point mutation in the RET gene (Ala883Thr), which is associated with medullary thyroid carcinoma phenotype only in homozygous condition, J Clin Endocrinol Metab, 89, 5823, 10.1210/jc.2004-0312 Kinlaw, 2005, Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma, Clin Endocrinol (Oxf), 63, 676, 10.1111/j.1365-2265.2005.02400.x Robledo, 2003, Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2 A, Cancer Res, 63, 1814 Lesueur, 2006, Polymorphisms in RET and its coreceptors and ligands as genetic modifiers of multiple endocrine neoplasia type 2A, Cancer Res, 66, 1177, 10.1158/0008-5472.CAN-05-2995 Eng, 1995, Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma, Clin Endocrinol (Oxf), 43, 123, 10.1111/j.1365-2265.1995.tb01903.x Opocher, 2003, Clinical and genetic aspects of phaeochromocytoma, Horm Res, 59, 56, 10.1159/000067846 Alderazi, 2005, Phaeochromocytoma: current concepts, Med J Aust, 183, 201, 10.5694/j.1326-5377.2005.tb06997.x Fuentes, 2006, The malignant potential of a succinate dehydrogenase subunit B germline mutation, J Endocrinol Invest, 29, 350, 10.1007/BF03344107 Calender, 2005, Genetics of endocrine tumours, Ann Pathol, 25, 463, 10.1016/S0242-6498(05)86161-9 Skinner, 2005, Prophylactic thyroidectomy in multiple endocrine neoplasia type 2 A, N Engl J Med, 353, 1105, 10.1056/NEJMoa043999 Yen, 2003, Medullary thyroid carcinoma: results of a standardized surgical approach in a contemporary series of 80 consecutive patients, Surgery, 134, 890, 10.1016/S0039-6060(03)00408-2 Piolat, 2006, Very early prophylactic thyroid surgery for infants with a mutation of the RET proto-oncogene at codon 634: evaluation of the implementation of internacional guidelines for MEN type 2 in a simple centre, Clin Endocrinol (Oxf), 65, 118, 10.1111/j.1365-2265.2006.02559.x Kaldrymides, 2006, A rare RET exon mutation is found in two Greek kindreds with familial medullary thyroid carcinoma: implications for screening, Clin Endocrinol (Oxf), 64, 561, 10.1111/j.1365-2265.2006.02509.x Dabir, 2006, The RET mutation E768D confers a late-onset familial medullary thyroid carcinoma – only phenotype with incomplete penetrance: Implications for screening and management of carrier status, Familial Cancer, 5, 201, 10.1007/s10689-006-6990-x Learoyd, 2005, Experience of prophylactic thyroidectomy in multiple endocrine neoplasia type 2 A kindreds with RET codon 804 mutations, Clin Endocrinol (Oxf), 63, 636, 10.1111/j.1365-2265.2005.02394.x