A novel somatic mutation in the RET proto-oncogene in familial medullary thyroid carcinoma with a germline codon 768 mutation

Japanese Journal of Cancer Research

Volumn 88, Issue 6, 1997, Pages 527-531

  Miyauchi, Akira ^a   Egawa, Shin Ichi ^b   Futami, Hitoyasu ^b   Kuma, Kanji ^c   Obara, Takao ^d   Yamaguchi, Ken ^b  

^a KAGAWA UNIVERSITY   (Japan)

^b NATIONAL CANCER CENTER RESEARCH INSTITUTE   (Japan)

^c KUMA HOSPITAL   (Japan)

^d TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Familial medullary carcinoma; Germline mutation; RET proto oncogene; Somatic mutation

Indexed keywords

ADULT; AGED; ARTICLE; CANCER GENETICS; CLINICAL ARTICLE; FEMALE; GERM LINE; HUMAN; HUMAN CELL; ONCOGENE RET; PRIORITY JOURNAL; SOMATIC MUTATION; THYROID MEDULLARY CARCINOMA; TUMOR SUPPRESSOR GENE;

EID: 0030748218     PISSN: 09105050     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1349-7006.1997.tb00414.x     Document Type: Article

References (15)

1. Knudson, A. G. Antioncogenes and human cancer. Proc. Natl. Acad. Sci. USA, 90, 10914-10921 (1993).
2. Santoro, M., Carlomagno, F., Romano, A., Bottaro, D. P., Dathan, N. A., Grieco, M., Fusco, A., Vecchio, G., Matoskova, B., Kraus, M. H. and Fiole, P. P. D. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science, 267, 381-383 (1995).
3. Mulligan, L. M., Kwok, J. B., Healey, C. S., Elsdon, M. J., Eng, C, Gardner, E., Love, D. R., Mole, S. E., Moore, J. K., Papi, L. and Fiole, P. P. D. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature, 363, 458-460 (1993).
4. Mulligan, L. M., Eng, C., Healey, C. S., Clayton, D., Kwok, J. B., Gardner, E., Ponder, M. A., Frilling, A., Jackson, C. E., Lehnert, H., Neumann, H. P. H., Thibodeau, S. N. and Ponder, B. A. J. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat. Genet., 6, 70-74 (1994).
5. Hofstra, R. M., Landsvater, R. M., Ceccherini, L, Stulp, R. P., Stelwagen, T., Luo, Y., Pasini, B., Hoppener, J. W., van Amstel, H. K., Romeo, G., Lips, C. J. M. and Buys, C. H. C. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature, 367, 375-376 (1994).
6. Asai, N., Iwashita, T., Matsuyama, M. and Takahashi, M. Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations. Mol. Cell. Biol., 15, 1613-1619 (1995).
7. Marsh, D. J., Andrew, S. D., Eng, C., Learoyd, D. L., Capes, A. G., Pojer, R., Richardson, A. L., Houghton, C., Mulligan, L. M., Ponder, B. A. J. and Robinson, B. G. Germline and somatic mutations in an oncogene: RET mutations in inherited medullary thyroid carcinoma. Cancer Res., 56, 1241-1243 (1996).
8. Wells, S. A., Jr., Baylin, S. B., Linehan, W. M., Farrell, R. E., Cox, E. B. and Cooper, C. W. Provocative agents and the diagnosis of medullary carcinoma of the thyroid gland. Ann. Surg., 188, 139-141 (1978).
9. Ceccherini, I., Hofstra, R. M., Luo, Y., Stulp, R. P., Barone, V., Stelwagen, T., Bocciardi, R., Nijveen, H., Bolino, A., Seri, M., Ronchetto, P., Pasini, B., Bozzano, M., Buys, C. H. C. M. and Romeo, G. DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene, 9, 3025-3029 (1994).
10. Eng, C., Smith, D. P., Mulligan, L. M., Healey, C. S., Zvelebil, M. J., Stonehouse, T. J., Ponder, M. A., Jackson, C. E., Waterfield, M. D. and Ponder, B. A. 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, 10, 509-513 (1995).
11. Mulligan, L. M., Marsh, D. J., Robinson, B. G., Schuffenecker, I., Zedenius, J., Lips, C. J., Gagel, R. F., Takai, S. I., Noll, W. W., Fink, M., Raue, F., Lacroix, A., Thibodeau, S. N., Frilling, A., Ponder, B. A. J., Eng, C. for the International RET Mutation Consortium: Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J. Intern. Med., 238, 343-346 (1995).
12. Orita, M., Suzuki, Y., Sekiya, T. and Hayashi, K. Rapid and sensitive detection of point mutations and DNA polymorphism using the polymerase chain reaction. Genomics, 5, 874-879 (1989).
13. Bolino, A., Schuffenecker, I., Luo, Y., Seri, M., Silengo, M., Tocco, T., Chabrier, G., Houdent, C., Murat, A., Schlumberger, M., Tourinaire, J., Lenoir, G. M. and Romeo, G. RET mutations in exons 13 and 14 of FMTC patients. Oncogene, 10, 2415-2419 (1995).
14. Carlson, K. M., Dou, S., Chi, D., Scavarda, N., Toshima, K., Jackson, C. E., Wells, S. A., Jr., Goodfellow, P. J. and Donis-Keller, H. 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 (1994).
15. Farndon, J. R., Leight, G. S., Dilley, W. G., Baylin, S. B., Smallridge, R. C., Harrison, T. S. and Wells, S. A., Jr. Familial medullary thyroid carcinoma without associated endocrinopathies. A distinct entity. Br. J. Surg., 73, 278-281 (1986).