A Korean family of familial medullary thyroid cancer with cys618ser RET germline mutation

Journal of Korean Medical Science

Volumn 25, Issue 2, 2010, Pages 226-229

  Jung, Jinhyang ^a   Uchino, Shinya ^b   Lee, Youngha ^a   Park, Hoyong ^a  

^a Kyungpook National University Hospital   (South Korea)

^b Noguchi Thyroid Clinic and Hospital Foundation   (Japan)

Author keywords

Familial medullary thyroid carcinoma; Genetic testing; RET mutation

Indexed keywords

PROTEIN RET;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; EXON; FEMALE; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOTYPE; HUMAN; MALE; MEDULLARY CARCINOMA; METASTASIS; MIDDLE AGED; MUTATION; PATHOLOGY; PEDIGREE; SOUTH KOREA; THYROID TUMOR;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; CARCINOMA, MEDULLARY; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PROTO-ONCOGENE PROTEINS C-RET; REPUBLIC OF KOREA; THYROID NEOPLASMS;

EID: 77951637219     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2010.25.2.226     Document Type: Article

References (18)

1. Alsanea O, Clark OH. Familial thyroid cancer. Curr Opin Oncol 2001; 13: 44-51.
2. Hemminki K, Dong C. Population-based study of familial medullary thyroid cancer. Fam Cancer 2001; 1: 45-9.
3. Kouvaraki MA, Shapiro SE, Perrier ND, Cote GJ, Gagel RF, Hoff AO, Sherman SI, Lee JE, Evans DB. RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors. Thyroid 2005; 15: 531-44.
4. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr, Marx SJ. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001; 86: 5658-71.
5. Mulligan LM, Marsh DJ, Robinson BG, Schuffenecker I, Zedenius J, Lips CJ, Gagel RF, Takai SI, Noll WW, Fink M. Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J Intern Med 1995; 238: 343-6.
6. Farndon JR, Leight GS, Dilley WG, Baylin SB, Smallridge RC, Harrison TS, Wells SA Jr. Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. Br J Surg 1986; 73: 278-81.
7. Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, van Amstel HK, Lips CJ, Nishisho I, Takai SI, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjold M, Komminoth P, Hendy GN, Mulligan LM. The relationship between specific RET protooncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 1996; 276: 1575-9.
8. Ponder BA, Ponder MA, Coffey R, Pembrey ME, Gagel RF, Telenius-Berg M, Semple P, Easton DF. Risk estimation and screening in families of patients with medullary thyroid carcinoma. Lancet 1988; 1: 397-401.
9. Mulligan LM, Eng C, Healey CS, Clayton D, Kwok JB, Gardner E, Ponder MA, Frilling A, Jackson CE, Lehnert H. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 1994; 6: 70-4.
10. Jimenez C, Dang GT, Schultz PN, El-Naggar A, Shapiro S, Barnes EA, Evans DB, Vassilopoulou-Sellin R, Gagel RF, Cote GJ, Hoff AO. A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma. J Clin Endocrinol Metab 2004; 89: 3521-6.
11. Eng C, Mulligan LM, Smith DP, Healey CS, Frilling A, Raue F, Neumann HP, Ponder MA, Ponder BA. Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma. Clin Endocrinol (Oxf) 1995; 43: 123-7.
12. Bolino A, Schuffenecker I, Luo Y, Seri M, Silengo M, Tocco T, Chabrier G, Houdent C, Murat A, Schlumberger M. RET mutations in exons 13 and 14 of FMTC patients. Oncogene 1995; 10: 2415-9.
13. Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grussendorf M, Raue F, Ritter MM, Hoppner W. 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 1998; 83: 770-4.
14. Hofstra RM, Fattoruso O, Quadro L, Wu Y, Libroia A, Verga U, Colantuoni V, Buys CH. A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. J Clin Endocrinol Metab 1997; 82: 4176-8.
15. Dang GT, Cote GJ, Schultz PN, Khorana S, Decker RA, Gagel RF. A codon 891 exon 15 RET proto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy. Mol Cell Probes 1999; 13: 77-9.
16. Takahashi M, Asai N, Iwashita T, Murakami H, Ito S. Molecular mechanisms of development of multiple endocrine neoplasia 2 by RET mutations. J Intern Med 1998; 243: 509-13.
17. Moers AM, Landsvater RM, Schaap C, Jansen-Schillhorn van Veen JM, de Valk IA, Blijham GH, Hoppener JW, Vroom TM, van Amstel HK, Lips CJ. Familial medullary thyroid carcinoma: not a distinct entity? Genotype-phenotype correlation in a large family. Am J Med 1996; 101: 635-41.
18. Machens A, Dralle H. Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma. World J Surg 2007; 31: 957-68.