메뉴 건너뛰기




Volumn 276, Issue 19, 1996, Pages 1575-1579

The relationship between specific ret proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET mutation consortium analysis

(30)  Eng, Charis a,c   Clayton, David d   Schuffenecker, Isabelle e   Lenoir, Gilbert e   Cote, Gilbert f   Gagel, Robert F f   Ploos Van Amstel, Hans Kristian g   Lips, Cornelis J M g   Nishisho, Isamu h   Takai, Shin Ichiro h   Marsh, Debbie J a,i   Robinson, Bruce G i   Frank Raue, Karin j   Raue, Friedhelm j   Xue, Feiyu k   Noll, Walter W k   Romei, Cristina l   Pacini, Furio l   Fink, Monika m   Niederle, Bruno m   more..


Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HUMAN; HYPERPARATHYROIDISM; MEDICAL DECISION MAKING; MULTIPLE ENDOCRINE NEOPLASIA; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROTO ONCOGENE; SCREENING; THYROID MEDULLARY CARCINOMA; TREATMENT PLANNING;

EID: 4644256817     PISSN: 00987484     EISSN: None     Source Type: Journal    
DOI: 10.1001/jama.276.19.1575     Document Type: Article
Times cited : (1038)

References (35)
  • 1
    • 0021299457 scopus 로고
    • Genetic aspects of multiple endocrine neoplasia
    • Schimke RN. Genetic aspects of multiple endocrine neoplasia. Annu Rev Med. 1984;35:25-31.
    • (1984) Annu Rev Med , vol.35 , pp. 25-31
    • Schimke, R.N.1
  • 2
    • 0014402822 scopus 로고
    • Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas: A possible regulatory defect in the differentiation of chromaffin tissue
    • Schimke RN, Hartmann WH, Prout TE, Rimoin DL. Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas: a possible regulatory defect in the differentiation of chromaffin tissue. N Engl J Med. 1968;279:1-7.
    • (1968) N Engl J Med , vol.279 , pp. 1-7
    • Schimke, R.N.1    Hartmann, W.H.2    Prout, T.E.3    Rimoin, D.L.4
  • 3
    • 0022535165 scopus 로고
    • Familial medullary thyroid carcinoma without associated endocrinopathies: A distinct clinical entity
    • Farndon JR, Leight GS, Dilley WG, et al. Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. Br J Surg. 1986;73:278-281.
    • (1986) Br J Surg , vol.73 , pp. 278-281
    • Farndon, J.R.1    Leight, G.S.2    Dilley, W.G.3
  • 7
    • 0027231568 scopus 로고
    • Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
    • Mulligan LM, Kwok JBJ, Healey CS, et al. Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 1993; 363:458-460.
    • (1993) Nature , vol.363 , pp. 458-460
    • Mulligan, L.M.1    Kwok, J.B.J.2    Healey, C.S.3
  • 8
    • 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. 1993;2:851-856.
    • (1993) Hum Mol Genet , vol.2 , pp. 851-856
    • Donis-Keller, H.1    Dou, S.2    Chi, D.3
  • 9
    • 0028199074 scopus 로고
    • Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC
    • Mulligan LM, Eng C, Healey CS, et al. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genet. 1994;6:70-74.
    • (1994) Nature Genet , vol.6 , pp. 70-74
    • Mulligan, L.M.1    Eng, C.2    Healey, C.S.3
  • 10
    • 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 DP, Mulligan LM, 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. 1995;10:509-513.
    • (1995) Oncogene , vol.10 , pp. 509-513
    • Eng, C.1    Smith, D.P.2    Mulligan, L.M.3
  • 11
    • 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. 1995;10:2415-2419.
    • (1995) Oncogene , vol.10 , pp. 2415-2419
    • Bolino, A.1    Schuffenecker, I.2    Luo, Y.3
  • 12
    • 0028174024 scopus 로고
    • A mutation in the RE T proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
    • Hofstra RMW, Landsvater RM, Ceccherini I, et al. A mutation in the RE T proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature. 1994;367:375-376.
    • (1994) Nature , vol.367 , pp. 375-376
    • Hofstra, R.M.W.1    Landsvater, R.M.2    Ceccherini, I.3
  • 13
    • 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 DP, Mulligan LM, 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. 1994;3:237-241.
    • (1994) Hum Mol Genet , vol.3 , pp. 237-241
    • Eng, C.1    Smith, D.P.2    Mulligan, L.M.3
  • 14
    • 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 KM, 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 U S A. 1994;91:1579-1583.
    • (1994) Proc Natl Acad Sci U S A , vol.91 , pp. 1579-1583
    • Carlson, K.M.1    Dou, S.2    Chi, D.3
  • 15
    • 0028826124 scopus 로고
    • RET mutations in the MEN 2 syndromes and Hirschsprung disease
    • Reynolds LF, Eng C. RET mutations in the MEN 2 syndromes and Hirschsprung disease. Curr Opin Pediatr. 1995;7:702-709.
    • (1995) Curr Opin Pediatr , vol.7 , pp. 702-709
    • Reynolds, L.F.1    Eng, C.2
  • 16
    • 0030896418 scopus 로고    scopus 로고
    • Mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2, related sporadic tumours and Hirschsprung disease
    • In press
    • Eng C, Mulligan LM. Mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2, related sporadic tumours and Hirschsprung disease. Hum Mutat. In press.
    • Hum Mutat
    • Eng, C.1    Mulligan, L.M.2
  • 18
    • 0029995894 scopus 로고    scopus 로고
    • Role of the RET proto-oncogene in sporadic hyperparathyroidism and in hyperparathyroidism of multiple endocrine neoplasia type 2
    • Pausova Z, Soliman E, Amizuka N, et al. Role of the RET proto-oncogene in sporadic hyperparathyroidism and in hyperparathyroidism of multiple endocrine neoplasia type 2. Baillieres J Clin Endocrinol Metab. 1996;81:2711-2718.
    • (1996) Baillieres J Clin Endocrinol Metab , vol.81 , pp. 2711-2718
    • Pausova, Z.1    Soliman, E.2    Amizuka, N.3
  • 19
    • 0029119781 scopus 로고
    • Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
    • Attié T, Pelet A, Edery P, et al. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet. 1995; 4:1381-1386.
    • (1995) Hum Mol Genet , vol.4 , pp. 1381-1386
    • Attié, T.1    Pelet, A.2    Edery, P.3
  • 20
    • 0029069528 scopus 로고
    • Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease
    • Angrist M, Bolk S, Thiel B, et al. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum Mol Genet. 1995;4:821-830.
    • (1995) Hum Mol Genet , vol.4 , pp. 821-830
    • Angrist, M.1    Bolk, S.2    Thiel, B.3
  • 21
    • 33751118285 scopus 로고
    • Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung disease
    • Okamoto E, Ueda T. Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung disease. J Pediatr Surg. 1967;10:437-443.
    • (1967) J Pediatr Surg , vol.10 , pp. 437-443
    • Okamoto, E.1    Ueda, T.2
  • 22
    • 0028566385 scopus 로고
    • Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
    • Mulligan LM, Eng C, Attié T, et al. Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet. 1994; 3:2163-2167.
    • (1994) Hum Mol Genet , vol.3 , pp. 2163-2167
    • Mulligan, L.M.1    Eng, C.2    Attié, T.3
  • 23
    • 0028027543 scopus 로고
    • RET proto-oncogene mutations in French MEN 2A and FMTC families
    • Schuffenecker I, Billaud M, Calender A, et al. RET proto-oncogene mutations in French MEN 2A and FMTC families. Hum Mol Genet. 1994;3:1939-1943.
    • (1994) Hum Mol Genet , vol.3 , pp. 1939-1943
    • Schuffenecker, I.1    Billaud, M.2    Calender, A.3
  • 25
    • 0028881998 scopus 로고
    • Genotype-phenotype correlation in MEN 2: Report of the International RET Mutation Consortium
    • Mulligan LM, Marsh DJ, Robinson BG, et al. Genotype-phenotype correlation in MEN 2: Report of the International RET Mutation Consortium. J Intern Med. 1995;238:343-346.
    • (1995) J Intern Med , vol.238 , pp. 343-346
    • Mulligan, L.M.1    Marsh, D.J.2    Robinson, B.G.3
  • 26
    • 0028088256 scopus 로고
    • Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A
    • Lips CJM, Landsvater RM, Höppener JWM, et al. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med. 1994;331:828-835.
    • (1994) N Engl J Med , vol.331 , pp. 828-835
    • Lips, C.J.M.1    Landsvater, R.M.2    Höppener, J.W.M.3
  • 27
    • 9044232867 scopus 로고    scopus 로고
    • The identification of false positive responses to the pentagastrin stimulation test in RET mutation negative members of MEN 2A families
    • Marsh DJ, McDowall D, Hyland VJ, et al. The identification of false positive responses to the pentagastrin stimulation test in RET mutation negative members of MEN 2A families. Clin Endocrinol. 1996;44:213-220.
    • (1996) Clin Endocrinol , vol.44 , pp. 213-220
    • Marsh, D.J.1    McDowall, D.2    Hyland, V.J.3
  • 28
    • 0028838578 scopus 로고
    • Mutations of codon 918 in the RET proto-oncogene correlate to poor prognosis in sporadic medullary thyroid carcinoma
    • Zedenius J, Larsson C, Bergholm U, et al. Mutations of codon 918 in the RET proto-oncogene correlate to poor prognosis in sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab. 1995; 80:3088-3090.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 3088-3090
    • Zedenius, J.1    Larsson, C.2    Bergholm, U.3
  • 29
    • 0029028664 scopus 로고
    • Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma
    • Eng C, Mulligan LM, Smith DP, et al. Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma. Clin Endocrinol. 1995; 43:123-127.
    • (1995) Clin Endocrinol , vol.43 , pp. 123-127
    • Eng, C.1    Mulligan, L.M.2    Smith, D.P.3
  • 30
    • 0023892913 scopus 로고
    • Family screening in medullary thyroid carcinoma presenting without a family history
    • Ponder BAJ, Finer N, Coffey R, et al. Family screening in medullary thyroid carcinoma presenting without a family history. Q J Med. 1988;67:299-308.
    • (1988) Q J Med. , vol.67 , pp. 299-308
    • Ponder, B.A.J.1    Finer, N.2    Coffey, R.3
  • 31
    • 0027997354 scopus 로고
    • Haplotype analysis of MEN 2 mutations
    • Gardner E, Mulligan LM, Eng C, et al. Haplotype analysis of MEN 2 mutations. Hum Mol Genet. 1994;3:1771-1774.
    • (1994) Hum Mol Genet , vol.3 , pp. 1771-1774
    • Gardner, E.1    Mulligan, L.M.2    Eng, C.3
  • 32
    • 0011195188 scopus 로고
    • RET mutations in MEN 2 associated diseases
    • Hofstra R, Stelwagen T, Stulp R, et al. RET mutations in MEN 2 associated diseases. Am J Hum Genet. 1994;55(suppl 3):A60.
    • (1994) Am J Hum Genet , vol.55 , Issue.3 SUPPL.
    • Hofstra, R.1    Stelwagen, T.2    Stulp, R.3
  • 33
    • 0028916234 scopus 로고
    • Mutation analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease
    • Borst MJ, van Camp JM, Peacock ML, Decker RA. Mutation analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease. Surgery. 1995;117:386-389.
    • (1995) Surgery , vol.117 , pp. 386-389
    • Borst, M.J.1    Van Camp, J.M.2    Peacock, M.L.3    Decker, R.A.4
  • 34
    • 0029814661 scopus 로고    scopus 로고
    • Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma
    • Noorani HZ, Khan HN, Gallie BL, Detsky AS. Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. Am J Hum Genet. 1996;59:301-307.
    • (1996) Am J Hum Genet , vol.59 , pp. 301-307
    • Noorani, H.Z.1    Khan, H.N.2    Gallie, B.L.3    Detsky, A.S.4
  • 35
    • 0029118799 scopus 로고
    • Analysis of RET proto-oncogene point mutations distinguished heritable from nonheritable medullary thyroid carcinomas
    • Komminoth P, Kunz EK, Matias-Guiu X, et al. Analysis of RET proto-oncogene point mutations distinguished heritable from nonheritable medullary thyroid carcinomas. Cancer. 1995;76:479-489.
    • (1995) Cancer , vol.76 , pp. 479-489
    • Komminoth, P.1    Kunz, E.K.2    Matias-Guiu, X.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.