메뉴 건너뛰기




Volumn 14, Issue 6, 2004, Pages 375-383

Management of patients with hereditary medullary thyroid carcinoma

Author keywords

Endocrinology; Mutation; Prophylaxis; RET proto oncogene; Surgery

Indexed keywords

CANCER SURGERY; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; GENETIC SCREENING; HEREDITY; HUMAN; MEN2 GENE; MOLECULAR GENETICS; MULTIGENE FAMILY; PROPHYLAXIS; PROTO ONCOGENE; REVIEW; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY;

EID: 11244327813     PISSN: 09397248     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-821209     Document Type: Review
Times cited : (11)

References (66)
  • 5
    • 0029823617 scopus 로고    scopus 로고
    • Clinical presentation and Ret proto-oncogene mutations in seven multiple endocrine neoplasia type 2 kindreds
    • Blank RD, Sklar CA, Dimich AB, LaQuaglia MP, Brennan MF. Clinical presentation and Ret proto-oncogene mutations in seven multiple endocrine neoplasia type 2 kindreds. Cancer 1996; 78: 1996-2003
    • (1996) Cancer , vol.78 , pp. 1996-2003
    • Blank, R.D.1    Sklar, C.A.2    Dimich, A.B.3    LaQuaglia, M.P.4    Brennan, M.F.5
  • 7
    • 0031741050 scopus 로고    scopus 로고
    • Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2 A and Hirschsprung disease
    • Borrego S, Eng C, Sanchez B, Saez ME, Navarro E, Antinolo G. Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2 A and Hirschsprung disease. J Clin Endocrinol Metab 1998; 83: 3361-3364
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 3361-3364
    • Borrego, S.1    Eng, C.2    Sanchez, B.3    Saez, M.E.4    Navarro, E.5    Antinolo, G.6
  • 8
    • 2442750413 scopus 로고    scopus 로고
    • Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression
    • Borrego S, Saez ME, Ruiz A, Gimm O, Lopez-Alonso M, Antinolo G, Eng C. Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet 1999; 36: 771-774
    • (1999) J Med Genet , vol.36 , pp. 771-774
    • Borrego, S.1    Saez, M.E.2    Ruiz, A.3    Gimm, O.4    Lopez-Alonso, M.5    Antinolo, G.6    Eng, C.7
  • 11
    • 0028916234 scopus 로고
    • Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease
    • Borst MJ, VanCamp JM, Peacock ML, Decker RA. Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease. Surgery 1995; 117: 386-391
    • (1995) Surgery , vol.117 , pp. 386-391
    • Borst, M.J.1    VanCamp, J.M.2    Peacock, M.L.3    Decker, R.A.4
  • 13
    • 0026736337 scopus 로고
    • A cluster of CpG islands at D10S94, near the locus responsible for multiple endocrine neoplasia type 2A (MEN2A)
    • Brooks-Wilson AR, Smailus DE, Goodfellow PJ. A cluster of CpG islands at D10S94, near the locus responsible for multiple endocrine neoplasia type 2A (MEN2A). Genomics 1992; 13: 339-343
    • (1992) Genomics , vol.13 , pp. 339-343
    • Brooks-Wilson, A.R.1    Smailus, D.E.2    Goodfellow, P.J.3
  • 15
    • 0030013621 scopus 로고    scopus 로고
    • C618 R mutation in exon 10 of the Ret proto-oncogene in a kindred with multiple endocrine neoplasia type 2 A and Hirschsprung diease
    • Caron P, Attie T, David D, Amiel J, Brousset F, Roger P, Munnich A, Lyonnet S. C618 R mutation in exon 10 of the Ret proto-oncogene in a kindred with multiple endocrine neoplasia type 2 A and Hirschsprung diease. J Clin Endocrinol Metab 1996; 81: 2731-2733
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 2731-2733
    • Caron, P.1    Attie, T.2    David, D.3    Amiel, J.4    Brousset, F.5    Roger, P.6    Munnich, A.7    Lyonnet, S.8
  • 17
    • 4244121593 scopus 로고
    • Cosegregation of Hirschsprung disease (HSCR) and a Ret mutation in a French Canadian family with MEN-2 A
    • Chretien P, Blanchard L, Gaboury L, Lacroix A, Verdy M, Villeneuve L. Cosegregation of Hirschsprung disease (HSCR) and a Ret mutation in a French Canadian family with MEN-2 A. Am J Hum Genet 1994; 55: A357
    • (1994) Am J Hum Genet , vol.55
    • Chretien, P.1    Blanchard, L.2    Gaboury, L.3    Lacroix, A.4    Verdy, M.5    Villeneuve, L.6
  • 19
    • 0036150602 scopus 로고    scopus 로고
    • The null oncogene hypothesis and protection from cancer
    • Davenport MP, Ward RL, Hawkins NJ. The null oncogene hypothesis and protection from cancer. J Med Genet 2002; 39: 12-15
    • (2002) J Med Genet , vol.39 , pp. 12-15
    • Davenport, M.P.1    Ward, R.L.2    Hawkins, N.J.3
  • 20
    • 0031964670 scopus 로고    scopus 로고
    • Hirschsprung disease in MEN 2 A: Increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation
    • Decker RA, Peacock ML, Watson P. Hirschsprung disease in MEN 2 A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. Hum Mol Genet 1998; 7: 129-134
    • (1998) Hum Mol Genet , vol.7 , pp. 129-134
    • Decker, R.A.1    Peacock, M.L.2    Watson, P.3
  • 23
    • 0029836333 scopus 로고    scopus 로고
    • The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease
    • Eng C. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. New Engl J Med 1996; 335: 943-951
    • (1996) New Engl J Med , vol.335 , pp. 943-951
    • Eng, C.1
  • 24
    • 0033357992 scopus 로고    scopus 로고
    • Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease
    • Fitze G, Schreiber M, Kuhlisch E, Schackert HK, Roesner D. Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease. Am J Hum Genet 1999; 65: 1469-1473
    • (1999) Am J Hum Genet , vol.65 , pp. 1469-1473
    • Fitze, G.1    Schreiber, M.2    Kuhlisch, E.3    Schackert, H.K.4    Roesner, D.5
  • 25
    • 0037029395 scopus 로고    scopus 로고
    • Association between c135G/A genotypes and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease
    • Fitze G, Cramer J, Ziegler A, Schierz M, Schreiber M, Kuhlisch E, Roesner D, Schackert HK. Association between c135G/A genotypes and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease. Lancet 2002; 359: 1200-1205
    • (2002) Lancet , vol.359 , pp. 1200-1205
    • Fitze, G.1    Cramer, J.2    Ziegler, A.3    Schierz, M.4    Schreiber, M.5    Kuhlisch, E.6    Roesner, D.7    Schackert, H.K.8
  • 26
    • 0036829504 scopus 로고    scopus 로고
    • Various penetrante of familial medullary thyroid carcinoma in patients with RET proto-oncogene codon 790/791 germline mutations
    • Fitze G, Schierz M, Bredow J, Saeger HD, Roesner D, Schackert HK. Various penetrante of familial medullary thyroid carcinoma in patients with RET proto-oncogene codon 790/791 germline mutations. Ann Surg 2002; 236: 570-575
    • (2002) Ann Surg , vol.236 , pp. 570-575
    • Fitze, G.1    Schierz, M.2    Bredow, J.3    Saeger, H.D.4    Roesner, D.5    Schackert, H.K.6
  • 28
    • 11244318545 scopus 로고    scopus 로고
    • Interaction of RET proto-oncogene codon 609 germline mutations with RET haplotypes characterized by c.135 G > A alleles modifying MEN 2 A or HSCR phenotypes
    • DOI: 10.1002/ajung.a30230
    • Fitze G, Schreiber M, Hohenberger W, Hümmer HP, Roesner D, Schackert HK. Interaction of RET proto-oncogene codon 609 germline mutations with RET haplotypes characterized by c.135 G > A alleles modifying MEN 2 A or HSCR phenotypes. Am J Med Genet DOI: 10.1002/ajung.a30230
    • Am J Med Genet
    • Fitze, G.1    Schreiber, M.2    Hohenberger, W.3    Hümmer, H.P.4    Roesner, D.5    Schackert, H.K.6
  • 29
    • 0033670409 scopus 로고    scopus 로고
    • Update on the MEN 2 A c804 RET mutation: Is prophylactic thyroidectomy indicated?
    • Frohnauer MK, Decker RA. Update on the MEN 2 A c804 RET mutation: is prophylactic thyroidectomy indicated? Surgery 2000; 128: 1052-1058
    • (2000) Surgery , vol.128 , pp. 1052-1058
    • Frohnauer, M.K.1    Decker, R.A.2
  • 31
  • 33
    • 85047677255 scopus 로고    scopus 로고
    • Expression pattern of Drosophila ret suggests a common ancestral origin between the metamorphosis precursors in insect endoderm and the vertebrate enteric neurons
    • Hahn M, Bishop J. Expression pattern of Drosophila ret suggests a common ancestral origin between the metamorphosis precursors in insect endoderm and the vertebrate enteric neurons. Proc Natl Acad Sci USA 2001; 98: 1053-1058
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 1053-1058
    • Hahn, M.1    Bishop, J.2
  • 35
    • 4444272177 scopus 로고    scopus 로고
    • Minisymposium: Multiple endocrine neoplasia type 1
    • abstract 231
    • Hofstra R. Minisymposium: Multiple endocrine neoplasia type 1. J Intern Med 1998; 243: (abstract 231)
    • (1998) J Intern Med , vol.243
    • Hofstra, R.1
  • 38
    • 0030739287 scopus 로고    scopus 로고
    • Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2 A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype
    • Ito S, Iwashita T, Asai N, Murakami H, Iwata Y, Sobue G, Takahashi M. Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2 A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. Cancer Res 1997; 57: 2870-2872
    • (1997) Cancer Res , vol.57 , pp. 2870-2872
    • Ito, S.1    Iwashita, T.2    Asai, N.3    Murakami, H.4    Iwata, Y.5    Sobue, G.6    Takahashi, M.7
  • 39
    • 0029896244 scopus 로고    scopus 로고
    • Diagnosis of multiple endocrine neoplasia (MEN) 2 A, 2 B and familial medullary thyroid cancer (FMTC) by multiplex PCR and heteroduplex analysis of RET proto-oncogene mutations
    • Kambouris M, Jackson CE, Feldmen GL. Diagnosis of multiple endocrine neoplasia (MEN) 2 A, 2 B and familial medullary thyroid cancer (FMTC) by multiplex PCR and heteroduplex analysis 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    Feldmen, G.L.3
  • 41
    • 0035479144 scopus 로고    scopus 로고
    • The RET receptor: Function in development and dysfunction in congenital malformation
    • Maniè S, Santoro M, Fusco A, Billaud M. The RET receptor: Function in development and dysfunction in congenital malformation. Trends Genet 2001; 17: 580-589
    • (2001) Trends Genet , vol.17 , pp. 580-589
    • Maniè, S.1    Santoro, M.2    Fusco, A.3    Billaud, M.4
  • 42
    • 0028095123 scopus 로고
    • A rapid screening method for the detection of mutations in the RET proto-oncogene in multiple endocrine neoplasia type 2 A 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 2 A and familial medullary thyroid carcinoma families. Genomics 1994; 23: 477-479
    • (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
  • 45
    • 0027232451 scopus 로고
    • Localization of the gene for multiple endocrine neoplasia type 2 A to a 480 kb region in chromosome band 10q11.2
    • Mole SE, Mulligan LM, Healey CS, Ponder BAJ, Tunnacliffe A. Localization of the gene for multiple endocrine neoplasia type 2 A to a 480 kb region in chromosome band 10q11.2. Hum Mol Genet 1993; 2: 247-252
    • (1993) Hum Mol Genet , vol.2 , pp. 247-252
    • Mole, S.E.1    Mulligan, L.M.2    Healey, C.S.3    Ponder, B.A.J.4    Tunnacliffe, A.5
  • 53
    • 16944364217 scopus 로고    scopus 로고
    • Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting
    • Peretz H, Luboshitsky R, Baron E, Bitot A, Gershoni R, Usher S, Grynberg E, Yakobson E, Graff E, Lapidot M. Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting. Hum Mutat 1997; 10: 155-159
    • (1997) Hum Mutat , vol.10 , pp. 155-159
    • Peretz, H.1    Luboshitsky, R.2    Baron, E.3    Bitot, A.4    Gershoni, R.5    Usher, S.6    Grynberg, E.7    Yakobson, E.8    Graff, E.9    Lapidot, M.10
  • 54
    • 0037629965 scopus 로고    scopus 로고
    • RET codon 634 mutations in multiple endocrine neoplasia type 2: Variable clinical features and clinical outcome
    • Punales MK, Graf H, Gross JL, Maia AL. RET codon 634 mutations in multiple endocrine neoplasia type 2: variable clinical features and clinical outcome. J Clin Endocr Metab 2003; 88: 2644-2649
    • (2003) J Clin Endocr Metab , vol.88 , pp. 2644-2649
    • Punales, M.K.1    Graf, H.2    Gross, J.L.3    Maia, A.L.4
  • 60
    • 0031018680 scopus 로고    scopus 로고
    • Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2 A and familial medullary thyroid carcinoma
    • Le Groupe d'Etude des Tumeurs a Calcitonine
    • Schuffenecker I, Ginet N, Goldgar D, Eng C, Chambe B, Boneu A, Houdent C, Pallo D, Schlumberger M, Thivolet C, Lenoir GM. Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2 A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine. Am J Hum Genet 1997; 60: 233-237
    • (1997) Am J Hum Genet , vol.60 , pp. 233-237
    • Schuffenecker, I.1    Ginet, N.2    Goldgar, D.3    Eng, C.4    Chambe, B.5    Boneu, A.6    Houdent, C.7    Pallo, D.8    Schlumberger, M.9    Thivolet, C.10    Lenoir, G.M.11
  • 63
    • 0022330363 scopus 로고
    • Activation of a Novel Human Transforming Gene, ret, by DNA Rearrangement
    • Takahashi M, Ritz J, Cooper GM. Activation of a Novel Human Transforming Gene, ret, by DNA Rearrangement. Cell 1985; 42: 581-588
    • (1985) Cell , vol.42 , pp. 581-588
    • Takahashi, M.1    Ritz, J.2    Cooper, G.M.3
  • 64
    • 0033054334 scopus 로고    scopus 로고
    • Co-segregation of MEN 2 and Hirschsprung's disease: The same mutation of RET with Gain and Loss-of-function?
    • Takahashi M, Iwashita T, Santoro M, Lyonnet S, Lenoir GM, Billaud M. Co-segregation of MEN 2 and Hirschsprung's disease: The same mutation of RET with Gain and Loss-of-function? Hum Mutat 1999; 13: 331-336
    • (1999) Hum Mutat , vol.13 , pp. 331-336
    • Takahashi, M.1    Iwashita, T.2    Santoro, M.3    Lyonnet, S.4    Lenoir, G.M.5    Billaud, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.