New multiple somatic mutations in the RET proto-oncogene associated with a sporadic medullary thyroid carcinoma

Thyroid

Volumn 16, Issue 3, 2006, Pages 311-316

  Dvoraka S ^a   Vaclavikova E ^a   Sykorova V ^a   Duskova J ^b   Vlcek P ^b   Ryska A ^c   Novak Z ^a   Bendlova B ^a  

^a INSTITUTE OF ENDOCRINOLOGY   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c UNIVERSITY HOSPITAL HRADEC KRALOVE   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN RET;

ADULT; AGED; ARTICLE; ASPIRATION BIOPSY; CANCER TISSUE; CONTROLLED STUDY; CYTOLOGY; CZECH REPUBLIC; DNA ISOLATION; DNA SEQUENCE; EXON; FAMILIAL CANCER; FEMALE; GENETIC ANALYSIS; GENETIC SCREENING; GERM LINE; HEMIZYGOTE; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; MALE; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; ONCOGENE RET; PRIORITY JOURNAL; PROTO ONCOGENE; SEQUENCE ANALYSIS; SIPPLE SYNDROME; SOMATIC MUTATION; THYROID MEDULLARY CARCINOMA;

ADOLESCENT; AGED; CARCINOMA, MEDULLARY; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS;

EID: 33645525634     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2006.16.311     Document Type: Article

References (32)

1. Ishizaka Y, Itoh F, Tahira T, Ikeda I, Sugimura T, Tucker J, Fertitta A, Carrano AV, Nagao M 1989 Human ret protooncogene mapped to chromosome 10q11.2. Oncogene 4:1519-1521.
2. Carlson KM, Dou S, Chi D, Scavarda N, Toshima K, Jackson CE, Wells SA Jr, Goodfellow PJ, Donis-Keller H 1994 Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci USA 91:1579-1583.
3. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, Howe JR, Moley JF, Goodfellow P, Wells SA Jr 1993 Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 2:851-856.
4. Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L 1993 Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363:458-460.
5. Eng C, Mulligan LM, Smith DP, Healey CS, Frilling A, Raue F, Neumann HP, Pfragner R, Behmel A, Lorenzo MJ 1995 Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma. Genes Chromosomes Cancer 12:209-212.
6. Zedenius J, Larsson C, Bergholm U, Bovee J, Svensson A, Hallengren B, Grimelius L, Backdahl M, Weber G, Wallin G 1995 Mutations of codon 918 in the RET proto-oncogene correlate to poor prognosis in sporadic medullary thyroid carcinomas. J Clin Endocrinol Metab 80:3088-3090.
7. Romei C, Elisei R, Pinchera A, Ceccherini I, Molinaro E, Mancusi F, Martino E, Romeo G, Pacini F 1996 Somatic mutations of the ret protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence. J Clin Endocrinol Metab 81:1619-1622.
8. Uchino S, Noguchi S, Yamashita H, Sato M, Adachi M, Yamashita H, Watanabe S, Ohshima A, Mitsuyama S, Iwashita T, Takahashi M 1999 Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type. Jpn J Cancer Res 90:1231-1237.
9. Marsh DJ, Scott DA, Eng C, Learoyd DL, Capes AG, Pojer R, Richardson AL, Houghton C, Mulligan LM, Ponder BAJ, Robinson BG 1996 Germline and somatic mutations .in an oncogene: RET mutations in inherited medullary thyroid carcinoma. Cancer Res 56:1241-1243.
10. Bugalho MJ, Coelho I, Sobrinho LG 2000 Somatic trinucleotide change encompassing codons 882 and 883 of the RET proto-oncogene in a patient with sporadic medullary thyroid carcinoma. Eur J Endocrinol 142:573-575.
11. Kalinin V, Frilling A 1998 27-bp Deletion in the RET protooncogene as a somatic mutation associated with medullary thyroid carcinoma. J Mol Med 76:365-367.
12. Alemi M, Lucas SD, Sallstrom JF, Bergholm U, Akerstrom G, Wilander E 1997 A complex nine base pair deletion in RET exon 11 common in sporadic medullary thyroid carcinoma. Oncogene 14:2041-2045.
13. Tessitore A, Sinisi AA, Pasquali D, Cardone M, Vitale D, Bellastella A, Colantuoni V 1999 A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. J Clin Endocrinol Metab 84:3522-3527.
14. Poturnajova M, Altanerova V, Kostalova L, Breza J, Altaner C 2005 Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome. J Mol Med 83:287-295.
15. Miyauchi A, Futami H, Hai N, Yokozawa T, Kuma K, Aoki N, Kosugi S, Sugano K, Yamaguchi K 1999 Two germline missense mutations at codons 804 and 806 of the RET protooncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation. Jpn J Cancer Res 90:1-5.
16. Bartsch DK, Hasse C, Schug C, Earth P, Rothmund M, Hoppner W 2000 A RET double mutation in the germline of a kindred with FMTC. Exp Clin Endocrinol Diabetes 108:128-132.
17. Kitamura Y, Scavarda N, Wells Jr SA, Jackson CE, Goodfellow PJ 1995 Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B. Hum Mol Genet 5:1987-1988.
18. Menko FH, van der Luijt RB, de VaIk IA, Toorians AW, Sepers JM, van Diest PJ, Lips CJ 2002 Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. J Clin Endocrinol Metab 87:393-397.
19. Eng C, Mulligan LM, Healey CS, Houghton C, Frilling A, Raue F, Thomas GA, Ponder BA 1996 Heterogeneous mutation of the RET proto-oncogene in subpopulations of medullary thyroid carcinoma. Cancer Res 56:2167-2170.
20. Miyauchi A, Egawa S, Futami H, Kuma K, Obara T, Yamaguchi K 1997 A novel somatic mutation in the RET protooncogene in familial medullary thyroid carcinoma with a germline codon 768 mutation. Jpn J Cancer Res 88:527-531.
21. Kalinin VN, Amosenko FA, Shabanov MA, Lubchenko LN, Hosch SB, Garkavtseva RF, Izbicki JR 2001 Three novel mutations in the RET proto-oncogene. J Mol Med 79:609-612.
22. Uchino S, Noguchi S, Adachi M, Sato M, Yamashita H, Watanabe S, Murakami T, Toda M, Murakami N, Yamashita H 1998 Novel point mutations and allele loss at the RET locus in sporadic medullary thyroid carcinomas. Jpn J Cancer Res 89:411-418.
23. Jindrichova S, Kodet R, Krskova L, Vlcek P, Bendlova B 2003 The newly detected mutations in the RET proto-oncogene in exon 16 as a cause of sporadic medullary thyroid carcinoma. J Mol Med 81:819-823.
24. Jindrichova S, Vcelak J, Vlcek P, Neradilova M, Nemec J, Bendlova B 2004 Screening of six risk exons of the RET protooncogene in families with medullary thyroid carcinoma in the Czech Republic. J Endocrinol 183:257-265.
25. Santoro M, Carlomagno F, Romano A, Bottaro DP, Dathan NA, Grieco M, Fusco A, Vecchio G, Matoskova B, Kraus MH 1995 Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and MEN 2B. Science 267:381-383.
26. Songyang Z, Carraway KL 3rd, Eck MJ, Harrison SC, Feldman RA, Mohammadi M, Schlessinger J, Hubbard SR, Smith DP, Eng C 1995 Catalytic specificity of protein-tyrosine kinases is critical for selective signalling. Nature 373:536-539.
27. Pelet A, Attie T, Goulet O, Eng C, Ponder BAJ, Munnich A, Lyonnet S 1994 De-novo mutations of the RET proto-oncogene in Hirschsprung's disease. The Lancet 344:1769.
28. Attie T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fekete C, Munnich A, Ponder BAJ, Lyonnet S 1995 Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet 4:1381-1386.
29. Ceccherini I, Pasini B, Pacini F, Gullo M, Bongarzone I, Romei C, Santamaria G, Matera I, Mondellini P, Scopsi L, Pinchera A, Pierotti MA, Romeo G 1997 Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogene. Oncogene 14:2609-2612.
30. Quadro L, Fattoruso O, Cosma MP, Verga U, Porcellini A, Libroia A, Colantuoni V 2001 Loss of heterozygosity at the RET protooncogene locus in a case of multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab 86:239-244.
31. Huang SC, Koch CA, Vortmeyer AO, Pack SD, Lichtenauer UD, Mannan P, Lubensky IA, Chrousos GP, Gagel RF, Pacak K, Zhuang Z 2000 Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas. Cancer Res 60:6223-6226.
32. Huang SC, Torres-Cruz J, Pack SD, Koch CA, Vortmeyer AO, Mannan P, Lubensky IA, Gagel RF, Zhuang Z 2003 Amplification and overexpression of mutant RET in multiple endocrine neoplasia type 2-associated medullary thyroid carcinoma. J Clin Endocrinol Metab 88:459-463.