A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Fattoruso, Olimpia ^a   Quadro, Loredana ^a   Libroia, Alfonso ^c   Verga, Uberta ^c   Lupoli, Giovanni ^b   Cascone, Edvige ^b   Colantuoni, Vittorio ^d  

^a CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c OSPEDALE NIGUARDA CA GRANDA   (Italy)

^d UNIVERSITY MEDITERRANEA OF REGGIO CALABRIA   (Italy)

Author keywords

FMTC; MENZA; Point mutations; RET proto oncogene

Indexed keywords

DNA; DROSOPHILA PROTEIN; ENDODEOXYRIBONUCLEASE NLAIII; METHIONINE; ONCOPROTEIN; PROTEIN RET; PROTEIN TYROSINE KINASE; RET ONCOGENE PROTEIN, DROSOPHILA; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE; VALINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CODON; EXON; FAMILY HEALTH; FEMALE; GENETICS; HUMAN; MALE; MEDULLARY CARCINOMA; METABOLISM; PEDIGREE; POINT MUTATION; THYROID TUMOR; CARCINOGENESIS; FAMILIAL CANCER; GENE LOCATION; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTO ONCOGENE; THYROID MEDULLARY CARCINOMA;

ADULT; AGED; AMINO ACID SUBSTITUTION; CARCINOMA, MEDULLARY; CODON; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA, NEOPLASM; DROSOPHILA PROTEINS; EXONS; FAMILY HEALTH; FEMALE; HUMANS; MALE; METHIONINE; PEDIGREE; POINT MUTATION; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; THYROID NEOPLASMS; VALINE;

EID: 0031984945     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110156     Document Type: Article

References (20)

1. Bolino A, Schuffenecker I, Yin L, Seri M, Silengo M, Tocco T, Chabrier G, Houdent C, Murat A, Schlumberger M, Tourniaire J, Lenoir GM, Romeo G (1995) RET mutations in exons 13 and 14 of FMTC patients. Oncogene 10:2415-2419.
2. Brooks-Wilson AR, Smailus D, Gilchrist D, Goodfellow PJ (1992) Additional RFLPs at D10S94 and the development of PCR. Based variant detection systems: implications for disease genotype prediction in MEN 2A, MEN 2B and MTC families. Genomics 13:233-234.
3. Ceccherini I, Hofstra RMW, Luo Y, Stulp RP, Barone V, Stelwagen T, Bocciardi R, Nijveen H, Bolino A, Seri M, Ronchetto P, Pasini B, Bozzano M, Buys CHCM, Romeo G (1994) DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the RET proto-oncogene. Oncogene 9:3025-3029.
4. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, Howe JR, MoleyJF, Goodfellow P, Wells SAJr (1993) Mutations in the RET proto-oncogene are associated with MEN2A and FMTC. Hum Mol Genet 2:851-856.
5. Eng C, Smith DP, Mulligan LM, Healey CS, Zvelebil MJ, Stonehouse TJ, Ponder MA, Jackson CE, Waterfield MD, Ponder BAJ (1995) 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.
6. Forster-Gibson CJ, Mulligan LM (1994) Multiple endocrine neopla-sia type 2. Eur J Cancer 30:1969-1974.
7. Hanks SK, Quinn AM, Hunter T (1988) The protein kinase family: Conserved features and deduced phylogeny of the catalytic domains. Science 241:42-45.
8. Hofstra RMW, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, Pasini B, Hoppener Jo WM, Ploos van Amstel HK, Romeo G, Lips CJM, Buys CHCM (1994) A mutation in the RET proto-oncogene associated with multiple endocrine neo-plasia type 2B and sporadic medullary thyroid carcinoma. Nature 367:375-376.
9. Khudson AG (1993) Antioncogenes and human cancer. Proc Nad Acad Sci USA 90:10914-10921.
10. Mulligan LM, Gardner E, Smith BA, Mathew CGP, Ponder BAJ (1993a) Genetic events in tumor initiation and progression in multiple endocrine neoplasia type 2. Genes Chrom Cancer 6:166-177.
11. Mulligan LM, Kwok JBJ, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, Ponder MA, Telenius H, Tunnacliffe A, Ponder BAJ (1993b) Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363:458-460.
12. Mulligan LM, Eng C, Healey CS, Clayton D, Kwok JBJ, Gardner E, Ponder MA, Frilling A, Jackson CE, Lhenert H, Neumann HPH, Thibodeau SN, Ponder BAJ (1994) Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genet 6:70-74.
13. Pasini B, Borrello MG, Greco A, Bongarzone I, Yin L, Mondellini P, Alberti L, Miranda C, Arighi E, Bocciardi R, Seri M, Barone V, Radice MT, Romeo G, Pierotti MA (1995) Loss of function effect of RET mutations causing Hirschsprung disease. Nature Genet 10:35-41.
14. Quadro L, Panariello L, Salvatore D, Carlomagno F, Del Prete M, Nunziata V, Colantuoni V, Di Giovanni G, Brandi ML, Mannelli M, Gheri R, Verga U, Libroia A, Berger N, Fusco A, Grieco M, Santoro M (1994) Frequent RET proto-oncogene mutations in multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab 79:590-594.
15. Raue F, Raue KF, Grauer A (1994) Multiple endocrine neoplasia type 2: clinical features and screening. Endocrinol Metab Clin North Am 23:137-156.
16. Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kaariainen H, Martusciello G (1994) Point mutation affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 367:377-378.
17. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular Cloning: A Laboratory Manual. 2nd Ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
18. Santoro M, Carlomagno F, Romano A, Bottaro DP, Dathan NA, Grieco M, Fusco A, Vecchio G, Matoskova B, Kraus MH, Di Fiore PP (1995) Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and MEN 2B. Science 267:381-383.
19. Schimke RN (1984) Genetic aspects of multiple endocrine neoplasia. Annu Rev Med 35:25-31.
20. Songyang Z, Carraway KL III, Eck MJ, Harrison SC, Feldman R, Mohammadi M, Schlessinger J, Hubbard SR, Smith DP, Eng C, Lorenzo MJ, Ponder BAJ, Mayer BJ, Cantley LC (1995) Catalytic specificity of protein-tyrosine kinase is critical for selective signalling. Nature 373:536-539.