Efficient testing of the RET gene by DHPLC analysis for MEN 2 syndrome in a cohort of patients

Anticancer Research

Volumn 25, Issue 3 B, 2005, Pages 2091-2095

  Pazaitou Panayiotou, Kalliopi ^a   Kaprara, Athina ^a   Sarika, Leda ^b   Zovoilis, Thanasis ^c   Belogianni, Ioulia ^c   Vainas, Iraklis ^a   Nasioulas, Georgios ^c  

^a Theagenio Hospital   (Greece)

^b ALEXANDRA HOSPITAL   (Greece)

^c HYGEIA HOSPITAL   (Greece)

Author keywords

DHPLC; MEN 2; RET; Sequencing

Indexed keywords

PROTEIN RET;

ARTICLE; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; ENDOCRINE TUMOR; EXON; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GERM LINE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; PRIORITY JOURNAL; RET GENE; SEQUENCE ANALYSIS; SIPPLE SYNDROME; VALIDATION PROCESS;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; COHORT STUDIES; EXONS; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B; ONCOGENE PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; SEQUENCE ANALYSIS, DNA;

EID: 21344433881     PISSN: 02507005     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Sanso G, Domene H, Garcia Rudaz M, Pusiol E, Mondino A, Roque M et al: Very early detection of RET proto-oncogene mutation is crucial for preventive thyroidectomy in MEN 2 children. Cancer 94: 323-330, 2002.
2. Gagel R, Shefelbine S and Gilbert C: Multiple endocrine neoplasia type 2. In: Principles of Molecular Medicine. Jameson JL (ed.). Totowa, New Jersey: Humana Press; pp. 505-511, 1998.
3. Robbins J, Merino MJ, Boice JD Jr, Ron E, Ain KB, Alexander HR, Norton JA and Reynolds J: Thyroid cancer: a lethal endocrine neoplasm. Ann Intern Med 115: 133-147, 1991.
4. Takahashi M, Asai N, Iwashita T, Murakami H and Ito S: Molecular mechanisms of development of multiple endocrine neoplasia 2 by RET mutations. J Intern Med 243: 509-513, 1998.
5. Mulligan LM, Eng C, Healey CS, Clayton D, Kwok JB, Gardner E, Ponder MA, Frilling A, Jackson CE, Lehnert H et al: Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 6: 70-74, 1994.
6. Mulligan LM, Marsh DJ, Robinson BG, Schuffenecker I, Zedenius J, Lips CJ, Gagel RF, Takai SI, Noll WW, Fink M et al: Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J Intern Med 238: 343-346, 1995.
7. Eng C: Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto- oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. N Engl J Med 335: 943-951, 1996.
8. Bolino A, Schuffenecker I, Luo Y, Seri M, Silengo M, Tocco T, Chabrier G, Houdent C, Murat A, Schlumberger M et al: RET mutations in exons 13 and 14 of FMTC patients. Oncogene 10: 2415-2419, 1995.
9. Eng C, Smith DP, Mulligan LM, Healey CS, Zvelebil MJ, Stonehouse TJ, Ponder MA, Jackson CE, Waterfield MD and Ponder BA: 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.
10. Decker RA, Peacock ML, Borst MJ, Sweet JD and Thompson NW: Progress in genetic screening of multiple endocrine neoplasia type 2A: is calcitonin testing obsolete? Surgery 118: 257-264, 1995.
11. Kitamura Y, Goodfellow PJ, Shimizu K, Nagahama M, Ito K, Kitagawa W, Akasu H, Takami H, Tanaka S and Wells SA Jr: Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC. Oncogene 14: 3103-3106, 1997.
12. Lips CJ: Clinical management of the multiple endocrine neoplasia syndromes: results of a computerized opinion poll at the Sixth International Workshop on Multiple Endocrine Neoplasia and von Hippel-Lindau disease. J Intern Med 243: 589-594, 1998.
13. American Society of Clinical Oncology [http://www.asco.org], home>Policy and Practice>Policy Issues>Genetic Testing> Statement on genetic testing for cancer susceptibility.
14. 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 and Marx SJ: Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86: 5658-5671, 2001.
15. Mihalatos M, Apessos A, Triantafillidis JK, Kosmidis PA, Fountzilas G, Agnantis NJ, Yannoukakos D and Nasioulas G: Evaluation of DHPLC in mutation screening of the APC gene in a Greek FAP cohort. Anticancer Res 23(3B): 2691-2695, 2003.
16. Papadopoulou E, Metaxa-Mariatou V, Hatzaki A, Hatzis Th and Nasioulas G: The implications of using mutagenic primers in combination with Taq polymerase having proofreading activity. Biologicals 32: 84-87, 2004.
17. Landsvater R, Jansen R, Hofstra R, Buys C, Lips C and Kristian Ploos van Amstel H: Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A. Hum Genet 97: 11-14, 1996.
18. Quadro L, Panariello L, Salvatore D, Carlomagno F, Del Prete M, Nunziat V et al: Frequent RET proto-oncogene mutations in MEN 2A. J Clin Endocrinol Metabol 79: 590-594, 1994.
19. [http://insertion.stanford.edu/melt.html]
20. Wagner T, Stoppa-Lyonnet D, Fleischmann E, Muhr D, Pages S, Sandberg T, Caux V, Moeslinger R, Langbauer G, Borg A and Oefner P: Denaturating high-performance liquid chromatography detects reliably BRCA 1 and BRCA 2 mutations. Genomics 62: 369-376, 1999.
21. Gross E, Arnold N, Goette J, Schwarz-Boeger U and Kiechle M: A comparison of BRCA 1 mutation analysis by direct sequencing, SSCP and DHPLC. Hum Genet 105: 72-78, 1999.