메뉴 건너뛰기




Volumn 141, Issue 1, 2007, Pages 90-95

Mutation analysis of the RET proto-oncogene and early thyroidectomy: results of a Portuguese cancer centre

Author keywords

[No Author keywords available]

Indexed keywords

CALCITONIN; DNA; PENTAGASTRIN;

EID: 33845507104     PISSN: 00396060     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.surg.2006.03.025     Document Type: Article
Times cited : (40)

References (41)
  • 1
    • 0021746211 scopus 로고
    • Medullary carcinoma of the thyroid. A study of the clinical features and prognostic factors in 161 patients
    • Saad M.F., Ordonez N.G., Rashid R.K., et al. Medullary carcinoma of the thyroid. A study of the clinical features and prognostic factors in 161 patients. Medicine 63 (1984) 319-342
    • (1984) Medicine , vol.63 , pp. 319-342
    • Saad, M.F.1    Ordonez, N.G.2    Rashid, R.K.3
  • 2
    • 0031733110 scopus 로고    scopus 로고
    • German medullary thyroid carcinoma/multiple endocrine neoplasia registry. German MTC/MEN Study Group. Medullary Thyroid Carcinoma/Multiple Endocrine Neoplasia Type 2
    • Raue F. German medullary thyroid carcinoma/multiple endocrine neoplasia registry. German MTC/MEN Study Group. Medullary Thyroid Carcinoma/Multiple Endocrine Neoplasia Type 2. Langenbecks Arch Surg 383 (1998) 334-336
    • (1998) Langenbecks Arch Surg , vol.383 , pp. 334-336
    • Raue, F.1
  • 3
    • 0034163301 scopus 로고    scopus 로고
    • Medullary thyroid carcinoma: clinical characteristics, treatment, prognostic factors, and a comparison of staging systems
    • Kebebew E., Ituarte P.H., Siperstein A.E., Duh Q.Y., and Clark O.H. Medullary thyroid carcinoma: clinical characteristics, treatment, prognostic factors, and a comparison of staging systems. Cancer 88 (2000) 1139-1148
    • (2000) Cancer , vol.88 , pp. 1139-1148
    • Kebebew, E.1    Ituarte, P.H.2    Siperstein, A.E.3    Duh, Q.Y.4    Clark, O.H.5
  • 4
    • 0027303248 scopus 로고
    • Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC
    • Donis-Keller H., Dou S., Chi D., et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 2 (1993) 851-856
    • (1993) Hum Mol Genet , vol.2 , pp. 851-856
    • Donis-Keller, H.1    Dou, S.2    Chi, D.3
  • 5
    • 0027231568 scopus 로고
    • Germline mutations of the RET protooncogene in multiple endocrine neoplasia Type 2A
    • Mulligan L.M., Kwok J.B., Healey C.S., et al. Germline mutations of the RET protooncogene in multiple endocrine neoplasia Type 2A. Nature 363 (1993) 458-460
    • (1993) Nature , vol.363 , pp. 458-460
    • Mulligan, L.M.1    Kwok, J.B.2    Healey, C.S.3
  • 6
    • 0027977002 scopus 로고
    • Single missense mutation in the tyrosine kinase catalytic domain of the RET proto-oncogene is associated with multiple endocrine neoplasia Type 2B
    • Carlson K.M., Dou S., Chi D., et al. Single missense mutation in the tyrosine kinase catalytic domain of the RET proto-oncogene is associated with multiple endocrine neoplasia Type 2B. Proc Natl Acad Sci USA 91 (1994) 1579-1583
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 1579-1583
    • Carlson, K.M.1    Dou, S.2    Chi, D.3
  • 7
    • 0028006092 scopus 로고
    • Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia Type 2B and related sporadic tumours
    • Eng C., Smith D.P., Mulligan L.M., et al. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia Type 2B and related sporadic tumours. Hum Mol Genet 3 (1994) 237-241
    • (1994) Hum Mol Genet , vol.3 , pp. 237-241
    • Eng, C.1    Smith, D.P.2    Mulligan, L.M.3
  • 8
    • 0028174024 scopus 로고
    • A mutation in the RET protooncogene associated with multiple endocrine neoplasia Type 2B and sporadic medullary thyroid carcinoma
    • Hofstra R.M., Landsvater R.M., Ceccherini I., et al. A mutation in the RET protooncogene associated with multiple endocrine neoplasia Type 2B and sporadic medullary thyroid carcinoma. Nature 367 (1994) 375-376
    • (1994) Nature , vol.367 , pp. 375-376
    • Hofstra, R.M.1    Landsvater, R.M.2    Ceccherini, I.3
  • 11
    • 0033498338 scopus 로고    scopus 로고
    • Surgical strategy for the treatment of medullary thyroid carcinoma
    • Fleming J.B., Lee J.E., Bouvet M., et al. Surgical strategy for the treatment of medullary thyroid carcinoma. Ann Surg 230 (1999) 697-707
    • (1999) Ann Surg , vol.230 , pp. 697-707
    • Fleming, J.B.1    Lee, J.E.2    Bouvet, M.3
  • 12
    • 0035034136 scopus 로고    scopus 로고
    • Diagnosis and therapy of sporadic and familial medullary thyroid carcinoma
    • Gimm O., Sutter T., and Dralle H. Diagnosis and therapy of sporadic and familial medullary thyroid carcinoma. J Cancer Res Clin Oncol 127 (2001) 156-165
    • (2001) J Cancer Res Clin Oncol , vol.127 , pp. 156-165
    • Gimm, O.1    Sutter, T.2    Dralle, H.3
  • 13
    • 0032698735 scopus 로고    scopus 로고
    • Early or prophylactic thyroidectomy in MEN 2/FMTC gene carriers: results in 71 thyroidectomized patients. The French Calcitonin Tumours Study Group (GETC)
    • Niccoli-Sire P., Murat A., Baudin E., et al. Early or prophylactic thyroidectomy in MEN 2/FMTC gene carriers: results in 71 thyroidectomized patients. The French Calcitonin Tumours Study Group (GETC). Eur J Endocrinol 141 (1999) 468-474
    • (1999) Eur J Endocrinol , vol.141 , pp. 468-474
    • Niccoli-Sire, P.1    Murat, A.2    Baudin, E.3
  • 14
    • 0141940150 scopus 로고    scopus 로고
    • European Multiple Endocrine Neoplasia (EUROMEN) Study Group. Early malignant progression of hereditary medullary thyroid cancer
    • Machens A., Niccoli-Sire P., Hoegel J., et al. European Multiple Endocrine Neoplasia (EUROMEN) Study Group. Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med 349 (2003) 1517-1525
    • (2003) N Engl J Med , vol.349 , pp. 1517-1525
    • Machens, A.1    Niccoli-Sire, P.2    Hoegel, J.3
  • 16
    • 0023181650 scopus 로고
    • Rapid isolation of eukaryotic DNA
    • Bowtell D.D. Rapid isolation of eukaryotic DNA. Anal Biochem 162 (1987) 463-465
    • (1987) Anal Biochem , vol.162 , pp. 463-465
    • Bowtell, D.D.1
  • 17
    • 0028566385 scopus 로고
    • Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
    • Mulligan L.M., Eng C., Attie T., et al. Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet 3 (1994) 2163-2167
    • (1994) Hum Mol Genet , vol.3 , pp. 2163-2167
    • Mulligan, L.M.1    Eng, C.2    Attie, T.3
  • 18
    • 0027965639 scopus 로고
    • DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene
    • Ceccherini I., Hofstra R.M., Luo Y., et al. DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene 9 (1994) 3025-3029
    • (1994) Oncogene , vol.9 , pp. 3025-3029
    • Ceccherini, I.1    Hofstra, R.M.2    Luo, Y.3
  • 19
    • 0033330662 scopus 로고    scopus 로고
    • A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma
    • Pigny P., Bauters C., Wemeau J.L., et al. A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma. J Clin Endocrinol Metab 84 (1999) 1700-1704
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 1700-1704
    • Pigny, P.1    Bauters, C.2    Wemeau, J.L.3
  • 20
    • 4644256817 scopus 로고    scopus 로고
    • The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis
    • Eng C., Clayton D., Schuffenecker I., et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 276 (1996) 1575-1579
    • (1996) JAMA , vol.276 , pp. 1575-1579
    • Eng, C.1    Clayton, D.2    Schuffenecker, I.3
  • 21
    • 0029118799 scopus 로고
    • Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas
    • Komminoth P., Kunz E.K., Matias-Guiu X., Hiort O., Christiansen G., Colomer A., et al. Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. Cancer 76 (1995) 479-489
    • (1995) Cancer , vol.76 , pp. 479-489
    • Komminoth, P.1    Kunz, E.K.2    Matias-Guiu, X.3    Hiort, O.4    Christiansen, G.5    Colomer, A.6
  • 22
    • 0028838075 scopus 로고
    • 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
    • Eng C., Smith D.P., Mulligan L.M., et al. 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 (1995) 509-513
    • (1995) Oncogene , vol.10 , pp. 509-513
    • Eng, C.1    Smith, D.P.2    Mulligan, L.M.3
  • 23
    • 0029002147 scopus 로고
    • RET mutations in exons 13 and 14 of FMTC patients
    • Bolino A., Schuffenecker I., Luo Y., et al. RET mutations in exons 13 and 14 of FMTC patients. Oncogene 10 (1995) 2415-2419
    • (1995) Oncogene , vol.10 , pp. 2415-2419
    • Bolino, A.1    Schuffenecker, I.2    Luo, Y.3
  • 24
    • 0030819689 scopus 로고    scopus 로고
    • A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma
    • Hofstra R.M., Fattoruso O., Quadro L., et al. A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. J Clin Endocrinol Metab 82 (1997) 4176-4178
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 4176-4178
    • Hofstra, R.M.1    Fattoruso, O.2    Quadro, L.3
  • 25
    • 0031765304 scopus 로고    scopus 로고
    • A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A
    • Berndt I., Reuter M., Saller B., et al. A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab 83 (1998) 770-774
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 770-774
    • Berndt, I.1    Reuter, M.2    Saller, B.3
  • 26
    • 0029028664 scopus 로고
    • Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma
    • (Oxf)
    • Eng C., Mulligan L.M., Smith D.P., et al. Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma. Clin Endocrinol 43 (1995) 123-127 (Oxf)
    • (1995) Clin Endocrinol , vol.43 , pp. 123-127
    • Eng, C.1    Mulligan, L.M.2    Smith, D.P.3
  • 27
    • 10244245097 scopus 로고    scopus 로고
    • Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma
    • Wohllk N., Cote G.J., Bugalho M.M., et al. Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab 81 (1996) 3740-3745
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 3740-3745
    • Wohllk, N.1    Cote, G.J.2    Bugalho, M.M.3
  • 28
    • 0031018680 scopus 로고    scopus 로고
    • Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine
    • Schuffenecker I., Ginet N., Goldgar D., et al. Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine. Am J Hum Genet 60 (1997) 233-237
    • (1997) Am J Hum Genet , vol.60 , pp. 233-237
    • Schuffenecker, I.1    Ginet, N.2    Goldgar, D.3
  • 29
    • 0035281583 scopus 로고    scopus 로고
    • Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients
    • Wiench M., Wygoda Z., Gubala E., et al. Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. J Clin Oncol 19 (2001) 1374-1380
    • (2001) J Clin Oncol , vol.19 , pp. 1374-1380
    • Wiench, M.1    Wygoda, Z.2    Gubala, E.3
  • 30
    • 0029864134 scopus 로고    scopus 로고
    • Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, adopted on February 20, 1996
    • Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, adopted on February 20, 1996. J Clin Oncol 14 (1996) 1730-1736
    • (1996) J Clin Oncol , vol.14 , pp. 1730-1736
  • 31
    • 0031925226 scopus 로고    scopus 로고
    • Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome
    • Sakai T., Wakizaka A., Matsuda H., Nirasawa Y., and Itoh Y. Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome. Pediatrics 101 (1998) 924-926
    • (1998) Pediatrics , vol.101 , pp. 924-926
    • Sakai, T.1    Wakizaka, A.2    Matsuda, H.3    Nirasawa, Y.4    Itoh, Y.5
  • 32
    • 0032762050 scopus 로고    scopus 로고
    • Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type
    • Uchino S., Noguchi S., Yamashita H., et al. Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type. Jpn J Cancer Res 90 (1999) 1231-1237
    • (1999) Jpn J Cancer Res , vol.90 , pp. 1231-1237
    • Uchino, S.1    Noguchi, S.2    Yamashita, H.3
  • 33
    • 17944370976 scopus 로고    scopus 로고
    • Calcitonin Tumors Group (GETC). Familial medullary thyroid carcinoma with noncysteine RET mutations: phenotype-genotype relationship in a large series of patients
    • Niccoli-Sire P., Murat A., Rohmer V., et al. Calcitonin Tumors Group (GETC). Familial medullary thyroid carcinoma with noncysteine RET mutations: phenotype-genotype relationship in a large series of patients. J Clin Endocrinol Metab 86 (2001) 3746-3753
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 3746-3753
    • Niccoli-Sire, P.1    Murat, A.2    Rohmer, V.3
  • 34
    • 0344442410 scopus 로고    scopus 로고
    • A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma
    • Da Silva A.M., Maciel R.M., Da Silva M.R., et al. A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma. J Clin Endocrinol Metab 88 (2003) 5438-5443
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 5438-5443
    • Da Silva, A.M.1    Maciel, R.M.2    Da Silva, M.R.3
  • 35
    • 31544439886 scopus 로고    scopus 로고
    • Exon 5 of the RET proto-oncogene: a newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg
    • Dvorakova S., Vaclavikova E., Duskova J., Vlcek P., Ryska A., and Bendlova B. 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 (2005) 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
  • 36
    • 0024507252 scopus 로고
    • Hereditary localized pruritus in affected members of a kindred with multiple endocrine neoplasia Type 2A (Sipple's syndrome)
    • Nunziata V., Giannattasio R., Di Giovanni G., D'Armiento M.R., and Mancini M. Hereditary localized pruritus in affected members of a kindred with multiple endocrine neoplasia Type 2A (Sipple's syndrome). Clin Endocrinol 30 (1989) 57-63
    • (1989) Clin Endocrinol , vol.30 , pp. 57-63
    • Nunziata, V.1    Giannattasio, R.2    Di Giovanni, G.3    D'Armiento, M.R.4    Mancini, M.5
  • 38
    • 0026492734 scopus 로고
    • A kindred with multiple endocrine neoplasia Type 2A associated with pruritic skin lesions
    • Bugalho M.J., Limbert E., Sobrinho L.G., et al. A kindred with multiple endocrine neoplasia Type 2A associated with pruritic skin lesions. Cancer 70 (1992) 2664-2667
    • (1992) Cancer , vol.70 , pp. 2664-2667
    • Bugalho, M.J.1    Limbert, E.2    Sobrinho, L.G.3
  • 39
    • 0028088256 scopus 로고
    • Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A
    • Lips C.J., Landsvater R.M., Hoppener J.W., et al. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med 331 (1994) 828-835
    • (1994) N Engl J Med , vol.331 , pp. 828-835
    • Lips, C.J.1    Landsvater, R.M.2    Hoppener, J.W.3
  • 40
    • 85047682409 scopus 로고    scopus 로고
    • Guidelines for diagnosis and therapy of MEN type 1 and type 2
    • Brandi M.L., Gagel R.F., Angeli A., et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86 (2001) 5658-5671
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 5658-5671
    • Brandi, M.L.1    Gagel, R.F.2    Angeli, A.3
  • 41
    • 12344335450 scopus 로고    scopus 로고
    • Advances in the management of hereditary medullary thyroid cancer
    • Machens A., Ukkat J., Brauckhoff M., Gimm O., and Dralle H. Advances in the management of hereditary medullary thyroid cancer. J Intern Med 257 (2005) 50-59
    • (2005) J Intern Med , vol.257 , pp. 50-59
    • Machens, A.1    Ukkat, J.2    Brauckhoff, M.3    Gimm, O.4    Dralle, H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.