Portal de Periódicos da CAPES

A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma

1998; Wiley; Volume: 11; Issue: S1 Linguagem: Inglês

10.1002/humu.1380110156

1098-1004

Olimpia Fattoruso, Loredana Quadro, A. Libroia, Uberta Verga, Giovanni Lupoli, Edvige Cascone, Vittorio Colantuoni,

Digestive system and related health

Human MutationVolume 11, Issue S1 p. S167-S171 Mutation in BriefFree Access A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma Olimpia Fattoruso, Olimpia Fattoruso Dipartimento di Biochimica e Biotecnologie Mediche, CEINGE, Centro di Ingegneria Genetica, ItalySearch for more papers by this authorLoredana Quadro, Loredana Quadro Dipartimento di Biochimica e Biotecnologie Mediche, CEINGE, Centro di Ingegneria Genetica, ItalySearch for more papers by this authorAlfonso Libroia, Alfonso Libroia Divisione di Endocrinologia, Ospedale Niguarda, 20162 Milano, ItalySearch for more papers by this authorUberta Verga, Uberta Verga Divisione di Endocrinologia, Ospedale Niguarda, 20162 Milano, ItalySearch for more papers by this authorGiovanni Lupoli, Giovanni Lupoli Dipartimento di Endocrinologia e di Eridocrinochirurgia, Facoltà di Medicina, Università degli Studi di Napoli Federico II, 80131 Napoli, ItalySearch for more papers by this authorEdvige Cascone, Edvige Cascone Dipartimento di Endocrinologia e di Eridocrinochirurgia, Facoltà di Medicina, Università degli Studi di Napoli Federico II, 80131 Napoli, ItalySearch for more papers by this authorProf. Vittorio Colantuoni, Corresponding Author Prof. Vittorio Colantuoni Facoltà di Farmacia, Università di Reggio Calabria, 88100 Catanzaro, Italy, Fax: +39-81-7463074Dipartimento di Biochimica e Biotecnologie Mediche, Facoltà di Medicina, Università degli Studi di Napoli "Federico II", Via S. Pansini, 5, 80131 Napoli, Italy: Fax: 39-81-7463074Search for more papers by this author Olimpia Fattoruso, Olimpia Fattoruso Dipartimento di Biochimica e Biotecnologie Mediche, CEINGE, Centro di Ingegneria Genetica, ItalySearch for more papers by this authorLoredana Quadro, Loredana Quadro Dipartimento di Biochimica e Biotecnologie Mediche, CEINGE, Centro di Ingegneria Genetica, ItalySearch for more papers by this authorAlfonso Libroia, Alfonso Libroia Divisione di Endocrinologia, Ospedale Niguarda, 20162 Milano, ItalySearch for more papers by this authorUberta Verga, Uberta Verga Divisione di Endocrinologia, Ospedale Niguarda, 20162 Milano, ItalySearch for more papers by this authorGiovanni Lupoli, Giovanni Lupoli Dipartimento di Endocrinologia e di Eridocrinochirurgia, Facoltà di Medicina, Università degli Studi di Napoli Federico II, 80131 Napoli, ItalySearch for more papers by this authorEdvige Cascone, Edvige Cascone Dipartimento di Endocrinologia e di Eridocrinochirurgia, Facoltà di Medicina, Università degli Studi di Napoli Federico II, 80131 Napoli, ItalySearch for more papers by this authorProf. Vittorio Colantuoni, Corresponding Author Prof. Vittorio Colantuoni Facoltà di Farmacia, Università di Reggio Calabria, 88100 Catanzaro, Italy, Fax: +39-81-7463074Dipartimento di Biochimica e Biotecnologie Mediche, Facoltà di Medicina, Università degli Studi di Napoli "Federico II", Via S. Pansini, 5, 80131 Napoli, Italy: Fax: 39-81-7463074Search for more papers by this author First published: 28 April 2011 https://doi.org/10.1002/humu.1380110156Citations: 34AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References Bolino A, Schuffenecker I, Yin L, Seri M, Silengo M, Tocco T, Chabrier G, Houdent C, Murat A, Schlumberger M, Tourniaire J, Lenoir GM, Romeo G (1995) RET mutations in exons 13 and 14 of FMTC patients. Oncogene 10: 2415– 2419. Brooks-Wilson AR, Smailus D, Gilchrist D, Goodfellow PJ (1992) Additional RFLPs at D10S94 and the development of PCR. Based variant detection systems: implications for disease genotype prediction in MEN 2A, MEN 2B and MTC families. Genomics 13: 233– 234. Ceccherini I, Hofstra RMW, Luo Y, Stulp RP, Barone V, Stelwagen T, Bocciardi R, Nijveen H, Bolino A, Seri M, Ronchetto P, Pasini B, Bozzano M, Buys CHCM, Romeo G (1994) DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the RET proto-oncogene. Oncogene 9: 3025– 3029. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, Howe JR, Moley JF, Goodfellow P, Wells SA Jr (1993) Mutations in the RET proto-oncogene are associated with MEN2A and FMTC. Hum Mol Genet 2: 851– 856. Eng C, Smith DP, Mulligan LM, Healey CS, Zvelebil MJ, Stonehouse TJ, Ponder MA, Jackson CE, Waterfield MD, Ponder BAJ (1995) A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene 10: 509– 513. Forster-Gibson CJ, Mulligan LM (1994) Multiple endocrine neoplasia type 2. Eur J Cancer 30: 1969– 1974. Hanks SK, Quinn AM, Hunter T (1988) The protein kinase family: Conserved features and deduced phylogeny of the catalytic domains. Science 241: 42– 45. Hofstra RMW, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, Pasini B, Jo Hoppener WM, van Amstel Ploos HK, Romeo G, Lips CJM, Buys CHCM (1994) A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 367: 375– 376. Knudson AG (1993) Antioncogenes and human cancer. Proc Natl Acad Sci USA 90: 10914– 10921. Mulligan LM, Gardner E, Smith BA, Mathew CGP, Ponder BAJ (1993a) Genetic events in tumor initiation and progression in multiple endocrine neoplasia type 2. Genes Chrom Cancer 6: 166– 177. Mulligan LM, Kwok JBJ, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, Ponder MA, Telenius H, Tunnacliffe A, Ponder BAJ (1993b) Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363: 458– 460. Mulligan LM, Eng C, Healey CS, Clayton D, Kwok JBJ, Gardner E, Ponder MA, Frilling A, Jackson CE, Lhenert H, Neumann HPH, Thibodeau SN, Ponder BAJ (1994) Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genet 6: 70– 74. Pasini B, Borrello MG, Greco A, Bongarzone I, Yin L, Mondellini P, Alberti L, Miranda C, Arighi E, Bocciardi R, Seri M, Barone V, Radice MT, Romeo G, Pierotti MA (1995) Loss of function effect of RET mutations causing Hirschsprung disease. Nature Genet 10: 35– 41. Quadro L, Panariello L, Salvatore D, Carlomagno F, Del Prete M, Nunziata V, Colantuoni V, Di Giovanni G, Brandi ML, Mannelli M, Gheri R, Verga U, Libroia A, Berger N, Fusco A, Grieco M, Santoro M (1994) Frequent RET proto-oncogene mutations in multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab 79: 590– 594. Raue F, Raue KF, Grauer A (1994) Multiple endocrine neoplasia type 2: clinical features and screening. Endocrinol Metab Clin North Am 23: 137– 156. Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kaariainen H, Martusciello G (1994) Point mutation affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 367: 377– 378. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular Cloning: A Laboratory Manual. 2nd Ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press. Santoro M, Carlomagno F, Romano A, Bottaro DP, Dathan NA, Grieco M, Fusco A, Vecchio G, Matoskova B, Kraus MH, Di Fiore PP (1995) Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and MEN 2B. Science 267: 381– 383. Schimke RN (1984) Genetic aspects of multiple endocrine neoplasia. Annu Rev Med 35: 25– 31. Songyang Z, Carraway KL III, Eck MJ, Harrison SC, Feldman R, Mohammadi M, Schlessinger J, Hubbard SR, Smith DP, Eng C, Lorenzo MJ, Ponder BAJ, Mayer BJ, Cantley LC (1995) Catalytic specificity of protein-tyrosine kinase is critical for selective signalling. Nature 373: 536– 539. Citing Literature Volume11, IssueS1Supplement: Human Mutation1998Pages S167-S171 ReferencesRelatedInformation