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Volumn 53, Issue 5-6, 2007, Pages 273-282

Change in the spectrum of RET mutations diagnosed between 1994 and 2006

Author keywords

Medullary thyroid carcinoma; MEN type 2; MTC; Multiple endocrine neoplasia type 2; RET proto oncogene

Indexed keywords

CALCITONIN; GENOMIC DNA; PENTAGASTRIN; PROTEIN RET;

EID: 34250805935     PISSN: 14336510     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (34)

References (80)
  • 1
    • 0028351331 scopus 로고
    • Multiple endocrine neoplasia type 2. Clinical features and screening
    • Raue F, Frank-Raue K, Grauer A. Multiple endocrine neoplasia type 2. Clinical features and screening. Endocr Metabol Clinics North Am 1994;23:137-156.
    • (1994) Endocr Metabol Clinics North Am , vol.23 , pp. 137-156
    • Raue, F.1    Frank-Raue, K.2    Grauer, A.3
  • 9
    • 22244480355 scopus 로고    scopus 로고
    • RET proto-oncogene: A review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors
    • Kouvaraki MA, Shapiro SE, Perrier ND, Cote GJ, Gagel RF, Hoff AO, Sherman SI, Lee JE, Evans DB. RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors. Thyroid 2005; 15:531-544.
    • (2005) Thyroid , vol.15 , pp. 531-544
    • Kouvaraki, M.A.1    Shapiro, S.E.2    Perrier, N.D.3    Cote, G.J.4    Gagel, R.F.5    Hoff, A.O.6    Sherman, S.I.7    Lee, J.E.8    Evans, D.B.9
  • 10
    • 0028027543 scopus 로고    scopus 로고
    • Schuffenecker I, Billaud M, Calender A, Chambe B, Ginet N, Calmettes C, Modigliani E, Lenoiur GM, and the GETC. RET proto-oncogene mutations in French MEN 2A and FMTC families. Human Molecular Genetics 1994;3:1939-1943.
    • Schuffenecker I, Billaud M, Calender A, Chambe B, Ginet N, Calmettes C, Modigliani E, Lenoiur GM, and the GETC. RET proto-oncogene mutations in French MEN 2A and FMTC families. Human Molecular Genetics 1994;3:1939-1943.
  • 11
    • 23044451691 scopus 로고    scopus 로고
    • Coincidence of multiple endocrine neoplasia type 1 and 2: Mutations in the RET proto-oncogene and MEN 1 tumor suppessor gene in a family presenting with recurrent primary hyperparathyroidism
    • Frank-Raue K, Rondot S, Höppner W, Goretzki P, Raue F, Meng W. Coincidence of multiple endocrine neoplasia type 1 and 2: mutations in the RET proto-oncogene and MEN 1 tumor suppessor gene in a family presenting with recurrent primary hyperparathyroidism. J Clin Endocrinol Metab 2005;90:4063-4067.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 4063-4067
    • Frank-Raue, K.1    Rondot, S.2    Höppner, W.3    Goretzki, P.4    Raue, F.5    Meng, W.6
  • 12
    • 33747633366 scopus 로고    scopus 로고
    • Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: Impact of individual RET genotype
    • Frank-Raue K, Buhr H, Dralle H, Klar E, Senninger N, Weber S, Rondot S, Höppner W, Raue F. Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of individual RET genotype. Eur J Endocrinol 2006;155:229-236.
    • (2006) Eur J Endocrinol , vol.155 , pp. 229-236
    • Frank-Raue, K.1    Buhr, H.2    Dralle, H.3    Klar, E.4    Senninger, N.5    Weber, S.6    Rondot, S.7    Höppner, W.8    Raue, F.9
  • 14
    • 7544238757 scopus 로고    scopus 로고
    • Emergence of medullary thyroid carcinoma in a family with Cys630Arg RET germline mutation
    • Machens A, Schneyer U, Holzhausen HJ, Raue F, Dralle H. Emergence of medullary thyroid carcinoma in a family with Cys630Arg RET germline mutation. Surgery 2004;136:1083-1087.
    • (2004) Surgery , vol.136 , pp. 1083-1087
    • Machens, A.1    Schneyer, U.2    Holzhausen, H.J.3    Raue, F.4    Dralle, H.5
  • 20
    • 31544439886 scopus 로고    scopus 로고
    • Exon 5 of the RET proto-oncogene: A newly detected risk exon for familial medullary thyroid carcinoma, a novel germline mutation Gly321Arg
    • Dvorakova S, Vaclavikova E, Duskova J, Vlcek P, Ryska A, Bendlova B. Exon 5 of the RET proto-oncogene: a newly detected risk exon for familial medullary thyroid carcinoma, a novel germline mutation Gly321Arg. J Endocrinol Invest 2005; 28:905-909.
    • (2005) J Endocrinol Invest , vol.28 , pp. 905-909
    • Dvorakova, S.1    Vaclavikova, E.2    Duskova, J.3    Vlcek, P.4    Ryska, A.5    Bendlova, B.6
  • 25
    • 4143126470 scopus 로고    scopus 로고
    • Frequency of RET proto-oncogene mutations in patients with normal and with moderately elevated pentagastrin-stimulated serum concentrations of calcitonin
    • Vierhapper H, Bieglmayer C, Heinze G, Baumgartner-Parzer S. Frequency of RET proto-oncogene mutations in patients with normal and with moderately elevated pentagastrin-stimulated serum concentrations of calcitonin. Thyroid 2004;14:580-583.
    • (2004) Thyroid , vol.14 , pp. 580-583
    • Vierhapper, H.1    Bieglmayer, C.2    Heinze, G.3    Baumgartner-Parzer, S.4
  • 27
    • 0031964670 scopus 로고    scopus 로고
    • Hirschsprung disease in MEN 2A: Increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation
    • Decker RA, Peacock ML, Watson P. Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. Hum Mol Genet. 1998; 7:129-34.
    • (1998) Hum Mol Genet , vol.7 , pp. 129-134
    • Decker, R.A.1    Peacock, M.L.2    Watson, P.3
  • 28
    • 0029896244 scopus 로고    scopus 로고
    • Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations
    • Kambouris M, Jackson CE, Feldman GL. Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations. Hum Mutat 1996;8:64-70.
    • (1996) Hum Mutat , vol.8 , pp. 64-70
    • Kambouris, M.1    Jackson, C.E.2    Feldman, G.L.3
  • 30
    • 0034830378 scopus 로고    scopus 로고
    • Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary
    • Klein I, Esik O, Homolya V, Szeri F, Varadi A. Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary. J Endocrinol 2001; 170:661-6.
    • (2001) J Endocrinol , vol.170 , pp. 661-666
    • Klein, I.1    Esik, O.2    Homolya, V.3    Szeri, F.4    Varadi, A.5
  • 31
    • 18444398955 scopus 로고    scopus 로고
    • Occurrence of pheochromocytoma in a MEN 2A family with codon 609 mutation of the RET proto-oncogene
    • Igaz P, Patocs A, Racz K, Klein I, Varadi A, Esik O. Occurrence of pheochromocytoma in a MEN 2A family with codon 609 mutation of the RET proto-oncogene. J Clin Endocrinol Metab 2002;87:2994.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 2994
    • Igaz, P.1    Patocs, A.2    Racz, K.3    Klein, I.4    Varadi, A.5    Esik, O.6
  • 32
    • 0030060475 scopus 로고    scopus 로고
    • Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: Two novel mutations and one de novo mutation for MEN 2A
    • Landsvater RM, Jansen RP, Hofstra RM, Buys CH, Lips CJ, Ploos van Amstel HK. Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A. Hum Genet 1996;97:11-4.
    • (1996) Hum Genet , vol.97 , pp. 11-14
    • Landsvater, R.M.1    Jansen, R.P.2    Hofstra, R.M.3    Buys, C.H.4    Lips, C.J.5    Ploos van Amstel, H.K.6
  • 33
    • 0031802249 scopus 로고    scopus 로고
    • Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma
    • Oriola J, Paramo C, Halperin I, Garcia-Mayor RV, Rivera-Fillat F. Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma. Am J Med Genet 1998;78:271-3.
    • (1998) Am J Med Genet , vol.78 , pp. 271-273
    • Oriola, J.1    Paramo, C.2    Halperin, I.3    Garcia-Mayor, R.V.4    Rivera-Fillat, F.5
  • 35
    • 0028095123 scopus 로고
    • A rapid screening method for the detection of mutations in the RET proto-oncogene in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma families
    • Marsh DJ, Robinson BG, Andrew S, Richardson AL, Pojer R, Schnitzler M, Mulligan LM, Hyland VJ. A rapid screening method for the detection of mutations in the RET proto-oncogene in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma families. Genomics 1994;23:477-9.
    • (1994) Genomics , vol.23 , pp. 477-479
    • Marsh, D.J.1    Robinson, B.G.2    Andrew, S.3    Richardson, A.L.4    Pojer, R.5    Schnitzler, M.6    Mulligan, L.M.7    Hyland, V.J.8
  • 39
    • 33745991805 scopus 로고    scopus 로고
    • A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A
    • Bae SJ, Kim DJ, Kim JY, Park SY, Choi SH, Song YD, Ki CS, Chung JH. A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A. Thyroid 2006;16:609-14.
    • (2006) Thyroid , vol.16 , pp. 609-614
    • Bae, S.J.1    Kim, D.J.2    Kim, J.Y.3    Park, S.Y.4    Choi, S.H.5    Song, Y.D.6    Ki, C.S.7    Chung, J.H.8
  • 42
    • 0030939501 scopus 로고    scopus 로고
    • A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis
    • Seri M, Celli I, Betsos N, Claudiani F, Camera G, Romeo G. A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis. Clin Genet 1997;51:86-90.
    • (1997) Clin Genet , vol.51 , pp. 86-90
    • Seri, M.1    Celli, I.2    Betsos, N.3    Claudiani, F.4    Camera, G.5    Romeo, G.6
  • 43
    • 18744374884 scopus 로고    scopus 로고
    • Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases
    • Ahmed SA, Snow-Bailey K, Highsmith WE, Sun W, Fenwick RG, Mao R. Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases. J Mol Diagn 2005;7:283-8.
    • (2005) J Mol Diagn , vol.7 , pp. 283-288
    • Ahmed, S.A.1    Snow-Bailey, K.2    Highsmith, W.E.3    Sun, W.4    Fenwick, R.G.5    Mao, R.6
  • 45
    • 0036605120 scopus 로고    scopus 로고
    • A novel germline point mutation, c.2304 G-->T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma
    • Antinolo G, Marcos I, Fernandez RM, Romero M, Borrego S. A novel germline point mutation, c.2304 G-->T, in codon 768 of the RET proto-oncogene in a patient with medullary thyroid carcinoma. Am J Med Genet 2002;110:85-7.
    • (2002) Am J Med Genet , vol.110 , pp. 85-87
    • Antinolo, G.1    Marcos, I.2    Fernandez, R.M.3    Romero, M.4    Borrego, S.5
  • 48
    • 0036067046 scopus 로고    scopus 로고
    • A new identified germline mutation of the RET proto-oncogene responsible for familial medullary thyroid carcinoma in co-existence with a hyperfunctioning autonomous nodule
    • Maschek W, Pichler R, Rieger R, Weinhausel A, Berg J. A new identified germline mutation of the RET proto-oncogene responsible for familial medullary thyroid carcinoma in co-existence with a hyperfunctioning autonomous nodule. Clin Endocrinol (Oxf) 2002;5:823.
    • (2002) Clin Endocrinol (Oxf) , vol.5 , pp. 823
    • Maschek, W.1    Pichler, R.2    Rieger, R.3    Weinhausel, A.4    Berg, J.5
  • 51
    • 0033526365 scopus 로고    scopus 로고
    • Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation
    • Nilsson O, Tisell LE, Jansson S, Ahlman H, Gimm O, Eng C. Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation. JAMA. 1999;281:1587-8.
    • (1999) JAMA , vol.281 , pp. 1587-1588
    • Nilsson, O.1    Tisell, L.E.2    Jansson, S.3    Ahlman, H.4    Gimm, O.5    Eng, C.6
  • 52
    • 0029848352 scopus 로고    scopus 로고
    • Study Group Multiple Endocrine Neoplasia Austria (SMENA)
    • Int J Cancer
    • Fink M, Weinhusel A, Niederle B, Haas OA. Distinction between sporadic and hereditary medullary thyroid carcinoma (MTC) by mutation analysis of the RET proto-oncogene. "Study Group Multiple Endocrine Neoplasia Austria (SMENA)". Int J Cancer 1996;69:312-6.
    • (1996) , vol.69 , pp. 312-316
    • Fink, M.1    Weinhusel, A.2    Niederle, B.3    Haas, O.A.4
  • 54
    • 0035320931 scopus 로고    scopus 로고
    • A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years
    • Demeester R, Parma J, Cochaux P, Vassart G, Abramowicz MJ. A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years. Hum Mutat 2001;17:354.
    • (2001) Hum Mutat , vol.17 , pp. 354
    • Demeester, R.1    Parma, J.2    Cochaux, P.3    Vassart, G.4    Abramowicz, M.J.5
  • 58
  • 61
    • 0028787248 scopus 로고
    • Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B
    • Kitamura Y, Scavarda N, Wells SA Jr, Jackson CE, Goodfellow PJ. Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B. Hum Mol Genet 1995;4:1987-8.
    • (1995) Hum Mol Genet , vol.4 , pp. 1987-1988
    • Kitamura, Y.1    Scavarda, N.2    Wells Jr, S.A.3    Jackson, C.E.4    Goodfellow, P.J.5
  • 63
    • 0030981891 scopus 로고    scopus 로고
    • A duplication of 12 bp in the critical cysteine-rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A
    • Höppner W, Ritter MM. A duplication of 12 bp in the critical cysteine-rich domain of the RET proto-oncogene results in a distinct phenotype of multiple endocrine neoplasia type 2A. Hum Mol Genet 1997;6:587-90.
    • (1997) Hum Mol Genet , vol.6 , pp. 587-590
    • Höppner, W.1    Ritter, M.M.2
  • 64
    • 0031984908 scopus 로고    scopus 로고
    • Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia. type 2A
    • Höppner W, Dralle H, Brabant G. Duplication of 9 base pairs in the critical cysteine-rich domain of the RET proto-oncogene causes multiple endocrine neoplasia. type 2A. Hum Mutat 1998; Suppl 1:S128-30.
    • (1998) Hum Mutat , Issue.SUPPL. 1
    • Höppner, W.1    Dralle, H.2    Brabant, G.3
  • 65
    • 0028838723 scopus 로고
    • The RET proto-oncogene and cancer
    • Donis-Keller H. The RET proto-oncogene and cancer. J Intern Med 1995;238:319-25.
    • (1995) J Intern Med , vol.238 , pp. 319-325
    • Donis-Keller, H.1
  • 67
    • 33751103971 scopus 로고    scopus 로고
    • An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinoma
    • Cordella D, Muzza M, Alberti L, Colombo P, Travaglini P, Beck-Peccoz P, Fugazzola L, Persani L. An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinoma. Endocr Relat Cancer 2006;13:945-53.
    • (2006) Endocr Relat Cancer , vol.13 , pp. 945-953
    • Cordella, D.1    Muzza, M.2    Alberti, L.3    Colombo, P.4    Travaglini, P.5    Beck-Peccoz, P.6    Fugazzola, L.7    Persani, L.8
  • 69
    • 0033045514 scopus 로고    scopus 로고
    • Two germline missense mutations at codons 804 and 806 of the RET proto oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation
    • Miyauchi A, Futami H, Hai N, Yokozawa T, Kuma K, Aoki N, Kosugi S, Sugano K, Yamaguchi K. Two germline missense mutations at codons 804 and 806 of the RET proto oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation. Jpn J Cancer Res 1999; 90:1-5.
    • (1999) Jpn J Cancer Res , vol.90 , pp. 1-5
    • Miyauchi, A.1    Futami, H.2    Hai, N.3    Yokozawa, T.4    Kuma, K.5    Aoki, N.6    Kosugi, S.7    Sugano, K.8    Yamaguchi, K.9
  • 71
    • 33646830149 scopus 로고    scopus 로고
    • Occurrence of the Cys611Tyr mutation and a novel Arg886Trp substitution in the RET proto-oncogene in multiple endocrine neoplasia type 2 families and sporadic medullary thyroid carcinoma cases originating from the central region of Portugal
    • Prazeres HJ, Rodrigues F, Figueiredo P, Naidenov P, Soares P, Bugatho MJ, Lacerda M, Campos B, Martins TC. Occurrence of the Cys611Tyr mutation and a novel Arg886Trp substitution in the RET proto-oncogene in multiple endocrine neoplasia type 2 families and sporadic medullary thyroid carcinoma cases originating from the central region of Portugal. Clin Endocrinol (Oxf) 2006;64:659-66.
    • (2006) Clin Endocrinol (Oxf) , vol.64 , pp. 659-666
    • Prazeres, H.J.1    Rodrigues, F.2    Figueiredo, P.3    Naidenov, P.4    Soares, P.5    Bugatho, M.J.6    Lacerda, M.7    Campos, B.8    Martins, T.C.9
  • 74
    • 18744399283 scopus 로고    scopus 로고
    • Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome
    • Poturnajova M, Altanerova V, Kostalova L, Breza J, Altaner C. Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome. J Mol Med 2005;83:287-95.
    • (2005) J Mol Med , vol.83 , pp. 287-295
    • Poturnajova, M.1    Altanerova, V.2    Kostalova, L.3    Breza, J.4    Altaner, C.5
  • 75
    • 0036882138 scopus 로고    scopus 로고
    • A novel Va16481le substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma
    • Nunes AB, Ezabella MC, Pereira AC, Krieger JE, Toledo SP. A novel Va16481le substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. J Clin Endocrinol Metah 2002;87:5658-61.
    • (2002) J Clin Endocrinol Metah , vol.87 , pp. 5658-5661
    • Nunes, A.B.1    Ezabella, M.C.2    Pereira, A.C.3    Krieger, J.E.4    Toledo, S.P.5
  • 76
    • 9444249981 scopus 로고    scopus 로고
    • Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic
    • Jindrichova S, Vcelak J, Vlcek P, Neradilova M, Nemec J, Bendlova B. Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic. J Endocrinol 2004;183:257-65.
    • (2004) J Endocrinol , vol.183 , pp. 257-265
    • Jindrichova, S.1    Vcelak, J.2    Vlcek, P.3    Neradilova, M.4    Nemec, J.5    Bendlova, B.6
  • 78
    • 0034766527 scopus 로고    scopus 로고
    • Familial medullary thyroid carcinoma and prominent comeal nerves associated with the germline V804M and V7781 mutations on the same allele of RET
    • Kasprzak L, Nolet S, Gaboury L, Pavia C, Villabona C, Rivera-Fillat F, Oriola J, Foulkes WD. Familial medullary thyroid carcinoma and prominent comeal nerves associated with the germline V804M and V7781 mutations on the same allele of RET. J Med Genet 2001;38:784-7.
    • (2001) J Med Genet , vol.38 , pp. 784-787
    • Kasprzak, L.1    Nolet, S.2    Gaboury, L.3    Pavia, C.4    Villabona, C.5    Rivera-Fillat, F.6    Oriola, J.7    Foulkes, W.D.8


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