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Volumn 69, Issue 1, 2008, Pages 81-87

Familial prevalence and age of RET germline mutations: Implications for screening

Author keywords

[No Author keywords available]

Indexed keywords

AGE DISTRIBUTION; ARTICLE; CODON; CONTROLLED STUDY; DNA SCREENING; ENDOCRINE TUMOR; EXON; FAMILIAL DISEASE; FEMALE; GENE REARRANGEMENT; GENETIC SCREENING; GENETIC TRANSFECTION; GERM LINE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MULTIPLE ENDOCRINE NEOPLASIA; MUTATION; PHENOTYPE; PHEOCHROMOCYTOMA; PREVALENCE; PRIORITY JOURNAL; THYROID MEDULLARY CARCINOMA;

EID: 45349087430     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2007.03153.x     Document Type: Article
Times cited : (50)

References (37)
  • 1
    • 0029836333 scopus 로고    scopus 로고
    • The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease
    • Eng, C. (1996) The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. New England Journal of Medicine, 335, 943 951.
    • (1996) New England Journal of Medicine , vol.335 , pp. 943-951
    • Eng, C.1
  • 9
    • 0141481958 scopus 로고    scopus 로고
    • Malignant progression from C-cell hyperplasia to medullary thyroid carcinoma in 167 carriers of RET germline mutations
    • Machens, A., Holzhausen, H.J., Thanh, P.N. Dralle, H. (2003) Malignant progression from C-cell hyperplasia to medullary thyroid carcinoma in 167 carriers of RET germline mutations. Surgery, 134, 425 431.
    • (2003) Surgery , vol.134 , pp. 425-431
    • MacHens, A.1    Holzhausen, H.J.2    Thanh, P.N.3    Dralle, H.4
  • 12
    • 0034997254 scopus 로고    scopus 로고
    • Presentation of a kindred with familial medullary thyroid carcinoma and Cys611Phe mutation of the RET proto-oncogene demonstrating low-grade malignancy
    • Siggelkow, H., Melzer, A., Nolte, W., Karsten, K., Höppner, W. Hüfner, M. (2001) Presentation of a kindred with familial medullary thyroid carcinoma and Cys611Phe mutation of the RET proto-oncogene demonstrating low-grade malignancy. European Journal of Endocrinology, 144, 467 473.
    • (2001) European Journal of Endocrinology , vol.144 , pp. 467-473
    • Siggelkow, H.1    Melzer, A.2    Nolte, W.3    Karsten, K.4    Höppner, W.5    Hüfner, M.6
  • 14
    • 0035724172 scopus 로고    scopus 로고
    • Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations
    • Loré, F., Talidis, F., di Cairano, G. Renieri, A. (2001) Multiple endocrine neoplasia type 2 syndromes may be associated with renal malformations. Journal of Internal Medicine, 250, 37 42.
    • (2001) Journal of Internal Medicine , vol.250 , pp. 37-42
    • Loré, F.1    Talidis, F.2    Di Cairano, G.3    Renieri, A.4
  • 16
    • 0034663197 scopus 로고    scopus 로고
    • Is thyroidectomy necessary in RET mutations carriers of the familial medullary thyroid carcinoma syndrome?
    • Hansen, H.S., Tørring, H., Godballe, C., Jäger, A.C. Nielsen, F.C. (2000) Is thyroidectomy necessary in RET mutations carriers of the familial medullary thyroid carcinoma syndrome? Cancer, 89, 863 867.
    • (2000) Cancer , vol.89 , pp. 863-867
    • Hansen, H.S.1    Tørring, H.2    Godballe, C.3    Jäger, A.C.4    Nielsen, F.C.5
  • 18
    • 0043175449 scopus 로고    scopus 로고
    • Surgical strategy in a kindred with a rare RET protooncogene mutation of variable penetrance with regard to multiple endocrine neoplasia
    • Colombo-Benkmann, M., Brämswig, J., Höppner, W., Gellner, R., Hengst, K., Böcker, W. Senninger, N. (2002) Surgical strategy in a kindred with a rare RET protooncogene mutation of variable penetrance with regard to multiple endocrine neoplasia. World Journal of Surgery, 26, 1286 1290.
    • (2002) World Journal of Surgery , vol.26 , pp. 1286-1290
    • Colombo-Benkmann, M.1    Brämswig, J.2    Höppner, W.3    Gellner, R.4    Hengst, K.5    Böcker, W.6    Senninger, N.7
  • 23
    • 33847681936 scopus 로고    scopus 로고
    • RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/MEN-2A phenotype
    • Pinna, G., Orgiana, G., Riola, A., Ghiani, M., Lai, M.L., Carcassi, C. Mariotti, S. (2007) RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/MEN-2A phenotype. Thyroid, 17, 101 104.
    • (2007) Thyroid , vol.17 , pp. 101-104
    • Pinna, G.1    Orgiana, G.2    Riola, A.3    Ghiani, M.4    Lai, M.L.5    Carcassi, C.6    Mariotti, S.7
  • 24
    • 34249089971 scopus 로고    scopus 로고
    • Prohibiting genetic discrimination
    • Hudson, K.L. (2007) Prohibiting genetic discrimination. New England Journal of Medicine, 356, 2021 2023.
    • (2007) New England Journal of Medicine , vol.356 , pp. 2021-2023
    • Hudson, K.L.1
  • 25
    • 33845507104 scopus 로고    scopus 로고
    • Mutation analysis of the RET proto-oncogene and early thyroidectomy: Results of a Portuguese cancer centre
    • Bugalho, M.J., Domingues, R., Santos, J.R., Catarino, A.L. Sobrinho, L. (2007) Mutation analysis of the RET proto-oncogene and early thyroidectomy: results of a Portuguese cancer centre. Surgery, 141, 90 95.
    • (2007) Surgery , vol.141 , pp. 90-95
    • Bugalho, M.J.1    Domingues, R.2    Santos, J.R.3    Catarino, A.L.4    Sobrinho, L.5
  • 26
    • 0013886997 scopus 로고
    • Histogenesis of medullary carcinoma of the thyroid
    • Williams, E.D. (1966) Histogenesis of medullary carcinoma of the thyroid. Journal of Clinical Pathology, 19, 114 118.
    • (1966) Journal of Clinical Pathology , vol.19 , pp. 114-118
    • Williams, E.D.1
  • 28
    • 0030159070 scopus 로고    scopus 로고
    • Autosomal recessive disorders in Saguenay-Lac-St-Jean, Quebec: Study of kinship
    • De Braekeleer, M. Gauthier, S. (1996) Autosomal recessive disorders in Saguenay-Lac-St-Jean, Quebec: study of kinship. Human Biology, 68, 371 381.
    • (1996) Human Biology , vol.68 , pp. 371-381
    • De Braekeleer, M.1    Gauthier, S.2
  • 32
    • 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
    • Jindrichová, S., Vcelák, J., Vlcek, P., Neradilová, M., Nemec, J. Bendlová, B. (2004) Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic. Journal of Endocrinology, 183, 257 265.
    • (2004) Journal of Endocrinology , vol.183 , pp. 257-265
    • Jindrichová, S.1    Vcelák, J.2    Vlcek, P.3    Neradilová, M.4    Nemec, J.5    Bendlová, B.6
  • 34
    • 29844458027 scopus 로고    scopus 로고
    • A RET mutation with decreased penetrance in the family of a patient with a 'sporadic' pheochromocytoma
    • Arum, S.H., Dahia, P.L., Schneider, K. Braverman, L.E. (2005) A RET mutation with decreased penetrance in the family of a patient with a 'sporadic' pheochromocytoma. Endocrine, 28, 193 198.
    • (2005) Endocrine , vol.28 , pp. 193-198
    • Arum, S.H.1    Dahia, P.L.2    Schneider, K.3    Braverman, L.E.4
  • 35
    • 35448953567 scopus 로고    scopus 로고
    • Y791F RET mutation and early onset of medullary thyroid carcinoma in a Brazilian kindred: Evaluation of phenotype-modifying effect of germline variants
    • Tamanaha, R., Camacho, C.P., Ikejiri, E.S., Maciel, R.M.B. Cerutti, J.M. (2007) Y791F RET mutation and early onset of medullary thyroid carcinoma in a Brazilian kindred: evaluation of phenotype-modifying effect of germline variants. Clinical Endocrinology, 67, 805 808.
    • (2007) Clinical Endocrinology , vol.67 , pp. 805-808
    • Tamanaha, R.1    Camacho, C.P.2    Ikejiri, E.S.3    MacIel, R.M.B.4    Cerutti, J.M.5
  • 36
    • 4844223240 scopus 로고    scopus 로고
    • Cost analysis of DNA-based testing in a large Canadian family with multiple endocrine neoplasia type 2
    • Gilchrist, D.M., Morrish, D.W., Bridge, P.J. Brown, J.L. (2004) Cost analysis of DNA-based testing in a large Canadian family with multiple endocrine neoplasia type 2. Clinical Genetics, 66, 349 353.
    • (2004) Clinical Genetics , vol.66 , pp. 349-353
    • Gilchrist, D.M.1    Morrish, D.W.2    Bridge, P.J.3    Brown, J.L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.