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Volumn 81, Issue 8, 1996, Pages 2881-2884

Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DELETION MUTANT; DNA SEQUENCE; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN CELL; ONCOGENE RET; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; THYROID MEDULLARY CARCINOMA; VON HIPPEL LINDAU DISEASE;

EID: 10144242640     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.8.2881     Document Type: Article
Times cited : (71)

References (27)
  • 1
    • 0021746211 scopus 로고
    • Medullary carcinoma of the thyroid. A study of the clinical features and prognostic factors in 161 patients
    • Saad MF, Ordenz NG, Rashid RK, et al. 1984 Medullary carcinoma of the thyroid. A study of the clinical features and prognostic factors in 161 patients. Medicine. 63:319-342.
    • (1984) Medicine , vol.63 , pp. 319-342
    • Saad, M.F.1    Ordenz, N.G.2    Rashid, R.K.3
  • 2
    • 0027518520 scopus 로고
    • Prognostic factors in medullary thyroid carcinoma: Evaluation of 741 patients from the German Medullary Thyroid Carcinoma Register
    • Raue F, Kotzerkez J, Reinwein D, et al. 1993 Prognostic factors in medullary thyroid carcinoma: evaluation of 741 patients from the German Medullary Thyroid Carcinoma Register. Clin Invest. 71:7-12.
    • (1993) Clin Invest , vol.71 , pp. 7-12
    • Raue, F.1    Kotzerkez, J.2    Reinwein, D.3
  • 3
    • 0027508442 scopus 로고
    • Pheochromocytomas multiple endocrine neoplasia type 2 and von Hippel-Lindau disease
    • Neumann HPH, Berger DP, Sigmund G, et al. 1993 Pheochromocytomas multiple endocrine neoplasia type 2 and von Hippel-Lindau disease. N Engl J Med. 329:1531-1538.
    • (1993) N Engl J Med , vol.329 , pp. 1531-1538
    • Neumann, H.P.H.1    Berger, D.P.2    Sigmund, G.3
  • 4
    • 10144220972 scopus 로고
    • Bilateral familial pheochromocytoma with paroxysmal hypertension: Successful surgical removal of tumors in 2 cases with discussion of certain diagnostic and physiological considerations
    • Calkins E, Howard JE. 1947 Bilateral familial pheochromocytoma with paroxysmal hypertension: successful surgical removal of tumors in 2 cases with discussion of certain diagnostic and physiological considerations. J Clin Endocrinol Metab. 7:475-492.
    • (1947) J Clin Endocrinol Metab , vol.7 , pp. 475-492
    • Calkins, E.1    Howard, J.E.2
  • 5
    • 0018776177 scopus 로고
    • Familial pheochromocytoma: A report of 2 cases in a kindred
    • Kaufman JJ, Franklin S. 1979 Familial pheochromocytoma: a report of 2 cases in a kindred. J Urol. 121:801-804.
    • (1979) J Urol , vol.121 , pp. 801-804
    • Kaufman, J.J.1    Franklin, S.2
  • 6
    • 0027231568 scopus 로고
    • Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
    • Mulligan LM, Kwok JBJ, Healey CS, et al. 1993 Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 363:458-460.
    • (1993) Nature , vol.363 , pp. 458-460
    • Mulligan, L.M.1    Kwok, J.B.J.2    Healey, C.S.3
  • 7
    • 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. 1993 Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet. 7:851-856.
    • (1993) Hum Mol Genet , vol.7 , pp. 851-856
    • Donis-Keller, H.1    Dou, S.2    Chi, D.3
  • 8
    • 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. 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. 20:509-513.
    • (1995) Oncogene , vol.20 , pp. 509-513
    • Eng, C.1    Smith, D.P.2    Mulligan, L.M.3
  • 9
    • 0028174024 scopus 로고
    • A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
    • Hofstra RMW, Landsvater RM, Ceccherini I, et al. 1994 A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature. 367:375-376.
    • (1994) Nature , vol.367 , pp. 375-376
    • Hofstra, R.M.W.1    Landsvater, R.M.2    Ceccherini, I.3
  • 10
    • 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. 1994 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. 91:1579-1583.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 1579-1583
    • Carlson, K.M.1    Dou, S.2    Chi, D.3
  • 11
    • 0028006092 scopus 로고
    • Point mutations within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors
    • Eng C, Smith DP, Mulligan LM, et al. 1994 Point mutations within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors. Hum Mol Genet. 3:237-241.
    • (1994) Hum Mol Genet , vol.3 , pp. 237-241
    • Eng, C.1    Smith, D.P.2    Mulligan, L.M.3
  • 12
    • 0028898296 scopus 로고
    • Mutation of the RET proto-oncogene in sporadic medullary carcinoma
    • Eng C, Muligan LM, Smith DP, et al. 1995 Mutation of the RET proto-oncogene in sporadic medullary carcinoma. Genes Chrom Cancer. 12:209-213.
    • (1995) Genes Chrom Cancer , vol.12 , pp. 209-213
    • Eng, C.1    Muligan, L.M.2    Smith, D.P.3
  • 13
    • 0028101170 scopus 로고
    • Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC's
    • Zedenius J, Wallin G, Hamberger B, Nordenskjord M, Weber G, Larsson C. 1994 Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC's. Hum Mol Genet. 3:1259-1262.
    • (1994) Hum Mol Genet , vol.3 , pp. 1259-1262
    • Zedenius, J.1    Wallin, G.2    Hamberger, B.3    Nordenskjord, M.4    Weber, G.5    Larsson, C.6
  • 14
    • 0028033474 scopus 로고
    • RET proto-oncogene mutations in inherited and sporadic medullary thyroid carcinoma
    • Blaugrund JE, Johns MM, Eby YJ, et al. 1994 RET proto-oncogene mutations in inherited and sporadic medullary thyroid carcinoma. Hum Mol Genet. 3:1895-1897.
    • (1994) Hum Mol Genet , vol.3 , pp. 1895-1897
    • Blaugrund, J.E.1    Johns, M.M.2    Eby, Y.J.3
  • 15
    • 0029099833 scopus 로고
    • Mutations in the cysteinerich region of the RET proto-oncogene in patients diagnosed as having sporadic medullary thyroid carcinoma
    • Kimura T, Yoshimoto K, Yokogoshi Y, Saito S. 1995 Mutations in the cysteinerich region of the RET proto-oncogene in patients diagnosed as having sporadic medullary thyroid carcinoma. Endocr J. 42:517-525.
    • (1995) Endocr J , vol.42 , pp. 517-525
    • Kimura, T.1    Yoshimoto, K.2    Yokogoshi, Y.3    Saito, S.4
  • 17
    • 0027240519 scopus 로고
    • Identification of the von Hippel-Lindau disease tumor suppressor gene
    • Latif F, Tory K, Gnarra J, et al. 1993 Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 260:1317-1320.
    • (1993) Science , vol.260 , pp. 1317-1320
    • Latif, F.1    Tory, K.2    Gnarra, J.3
  • 18
    • 0029090153 scopus 로고
    • Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II
    • Neumann HPH, Eng C, Mulligan LM, et al. 1995 Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. JAMA. 11:1149-1151.
    • (1995) JAMA , vol.11 , pp. 1149-1151
    • Neumann, H.P.H.1    Eng, C.2    Mulligan, L.M.3
  • 19
    • 0002837488 scopus 로고
    • A new cell line for study of human medullary thyroid carcinoma
    • Andreoli M, Monaco F, Robbins J, eds. Rome: Field Educational Italia
    • Leong SS, Horoszewicz JS, Shimaoka K, et al. 1981 A new cell line for study of human medullary thyroid carcinoma. In: Andreoli M, Monaco F, Robbins J, eds. Advances in thyroid neoplasia. Rome: Field Educational Italia; 95-108.
    • (1981) Advances in Thyroid Neoplasia , pp. 95-108
    • Leong, S.S.1    Horoszewicz, J.S.2    Shimaoka, K.3
  • 20
    • 10144227398 scopus 로고
    • Cytogenetic characterization of two human and three rat medullary thyroid carcinoma cell lines
    • Taylor LD, Elder FFB, Knuth A, Gagel RF. 1989 Cytogenetic characterization of two human and three rat medullary thyroid carcinoma cell lines. Henry Ford Hosp Med J. 37:207.
    • (1989) Henry Ford Hosp Med J , vol.37 , pp. 207
    • Taylor, L.D.1    Elder, F.F.B.2    Knuth, A.3    Gagel, R.F.4
  • 21
    • 0027965639 scopus 로고
    • DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the RET proto-oncogene
    • Ceccherini I, Hofstra RMW, Yin L, et al. 1994 DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the RET proto-oncogene. Oncogene 9:3025-3029.
    • (1994) Oncogene , vol.9 , pp. 3025-3029
    • Ceccherini, I.1    Hofstra, R.M.W.2    Yin, L.3
  • 22
    • 0028030581 scopus 로고
    • Identification of intragenic mutations in von Hippel-Lindau disease tumor suppressor gene and correlation with disease phenotype
    • Crossey PA, Richards FM, Foster K, et al. 1994 Identification of intragenic mutations in von Hippel-Lindau disease tumor suppressor gene and correlation with disease phenotype. Hum Mol Genet. 3:1303-1309.
    • (1994) Hum Mol Genet , vol.3 , pp. 1303-1309
    • Crossey, P.A.1    Richards, F.M.2    Foster, K.3
  • 24
    • 0027480815 scopus 로고
    • The clinical implications of a positive calcitonin test for C-cell hyperplasia in genetically unaffected members of an MEN 2A kindred
    • Landsvater RM, Rombouts AGM, te Meerman GJ, et al. 1993 The clinical implications of a positive calcitonin test for C-cell hyperplasia in genetically unaffected members of an MEN 2A kindred. Am J Hum Genet. 52:335-342.
    • (1993) Am J Hum Genet , vol.52 , pp. 335-342
    • Landsvater, R.M.1    Rombouts, A.G.M.2    Te Meerman, G.J.3
  • 25
    • 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. 1994 Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med. 331:823-835.
    • (1994) N Engl J Med , vol.331 , pp. 823-835
    • Lips, C.J.M.1    Landsvater, R.M.2    Höppener, J.W.M.3
  • 26
    • 0029050368 scopus 로고
    • Loss of function effect of RET mutations causing Hirschsprung disease
    • Pasini B, Borrello MG, Greco A, et al. 1995 Loss of function effect of RET mutations causing Hirschsprung disease. Nature Genet. 10:35-41.
    • (1995) Nature Genet , vol.10 , pp. 35-41
    • Pasini, B.1    Borrello, M.G.2    Greco, A.3
  • 27
    • 0028981766 scopus 로고
    • Germline mutations in the von Hippel-lindau disease tumor suppressor gen: Correlation with phenotype
    • Chen F, Kishida T, Yao M, et al. 1995 Germline mutations in the von Hippel-lindau disease tumor suppressor gen: correlation with phenotype. Hum Mutat. 5:66-75.
    • (1995) Hum Mutat , vol.5 , pp. 66-75
    • Chen, F.1    Kishida, T.2    Yao, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.