Multiple endocrine neoplasia: Types 1 and 2

Advances in Oto-Rhino-Laryngology

Volumn 70, Issue , 2011, Pages 84-90

  Marsh, Deborah J ^a   Gimm, Oliver ^b  

^a UNIVERSITY OF SYDNEY   (Australia)

^b LINKÖPING UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

MEN1 PROTEIN, HUMAN; ONCOPROTEIN; PROTEIN RET; RET PROTEIN, HUMAN;

ARTICLE; CODON; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HUMAN; MULTIPLE ENDOCRINE NEOPLASIA; MUTATION; NEOPLASM; PATHOLOGY; SIPPLE SYNDROME; THYROID TUMOR;

CODON; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; NEOPLASMS; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS;

EID: 79952388666     PISSN: 00653071     EISSN: None     Source Type: Book Series    
DOI: 10.1159/000322479     Document Type: Article

References (27)

1. Marsh D, Zori R: Genetic insights into familial cancers - update and recent discoveries. Cancer Lett 2002;181:125-164. (Pubitemid 34518299)
2. Kopp P: A long- sought needle in the haystack: the multiple endocrine neoplasia type 1 gene. Eur J Endocrinol 1997; 137:222-223. (Pubitemid 27405103)
3. Schussheim DH, Skarulis MC, Agarwal SK, Simonds WF, Burns AL, Spiegel AM, et al: Multiple endocrine neoplasia type 1: new clinical and basic findings. Trends Endocrinol Metab 2001;12: 173-178. (Pubitemid 33713559)
4. Doherty GM, Olson JA, Frisella MM, Lairmore TC, Wells SA Jr, Norton JA: Lethality of multiple endocrine neoplasia type I. World J Surg 1998;22:581- 586;discussion 6-7.
5. Brandi ML, Gagel RF, Angeli A, et al: Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001;86:5658-5671. (Pubitemid 33152604)
6. Sierra M, Gibelin H, Kraimps JL: Multiple endocrine neoplasia type 1; in Clark O, Duh Q- Y, Kebebew E (eds): Textbook of Endocrine Surgery. Philadelphia, Elsevier Saunders, 2005, pp 489- 492.
7. Chandrasekharappa SC, Guru SC, Manickam P, et al: Positional cloning of the gene for multiple endocrine neoplasia- type 1. Science 1997;276: 404-407.
8. Lemmens I, Van De Ven WJ, Kas K, Zhang CX, Giraud S, Wautot V, et al: Identification of the multiple endocrine neoplasia type 1 (MEN1) gene: the European Consortium on MEN1. Hum Mol Genet 1997;6:1177-1183. (Pubitemid 27308405)
9. Chandrasekharappa SC, Teh BT: Functional studies of the MEN1 gene. J Intern Med 2003;253:606-615. (Pubitemid 36649092)
10. Falchetti A, Marini F, Brandi ML: Multiple endocrine neoplasia type 1. Gene Reviews. Seattle, University of Washington, 2010, pp 1- 37.
11. Lemos MC, Thakker RV: Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat 2008;29:22-32.
12. Agarwal SK, Mateo CM, Marx SJ: Rare germline mutations in cyclin- dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. J Clin Endocrinol Metab 2009;94:1826-1834.
13. Giraud S, Zhang CX, Serova- Sinilnikova O, et al: Germ- line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders. Am J Hum Genet 1998;63:455-467. (Pubitemid 30418627)
14. Wautot V, Vercherat C, Lespinasse J, et al: Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. Hum Mutat 2002;20: 35-47. (Pubitemid 34747715)
15. Thompson GB, Young WF: Multiple endocrine neoplasia type 1; in Clark O, Duh Q- Y, Kebebew E (eds): Multiple Endocrine Neoplasia Type 1. Philadelphia, Elsevier Saunders, 2005, pp 673- 690.
16. Hebert SC: Therapeutic use of calcimimetics. Annu Rev Med 2006;57:349-364. (Pubitemid 43261995)
17. Falchetti A, Cilotti A, Vaggelli L, et al: A patient with MEN1- associated hyperparathyroidism, responsive to cinacalcet. Nat Clin Pract Endocrinol Metab 2008;4: 351-357. (Pubitemid 351733458)
18. Faggiano A, Tavares LB, Tauchmanova L, et al: Effect of treatment with depot somatostatin analogue octreotide on primary hyperparathyroidism (PHP) in multiple endocrine neoplasia type 1 (MEN1) patients. Clin Endocrinol (Oxf) 2008;69:756-762.
19. Eng C: Common alleles of predisposition in endocrine neoplasia. Curr Opin Genet Dev 2010;20:1-6.
20. Ponder BA, Ponder MA, Coffey R, et al: Risk estimation and screening in families of patients with medullary thyroid carcinoma. Lancet 1988;i:397-401.
21. Mulligan LM, Kwok JB, Healey CS, et al: Germ- line mutations of the RET protooncogene in multiple endocrine neoplasia type 2A. Nature 1993;363:458-460. (Pubitemid 23179393)
22. Marsh DJ, Hahn MA, Howell VM, Gill AJ: Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes. Expert Opin Med Diagn 2007;1:377-392.
23. Eng C, Clayton D, Schuffenecker I, et al: The relationship between specific RET proto- oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 1996; 276:1575-1579. (Pubitemid 26384740)
24. Schuffenecker I, Billaud M, Calender A, et al: RET proto- oncogene mutations in French MEN 2A and FMTC families. Hum Mol Genet 1994;3:1939-1943. (Pubitemid 24341368)
25. Wiesner GL, Snow- Bailey K: Multiple endocrine neoplasia type 2. Gene Reviews. Seattle, University of Washington, 2005, pp 1- 25.
26. Machens A, Lorenz K, Dralle H: Individualization of lymph node dissection in RET (rearranged during transfection) carriers at risk for medullary thyroid cancer: value of pretherapeutic calcitonin levels. Ann Surg 2009;250: 305-310.
27. Wells SA Jr, Gosnell JE, Gagel RF, et al: Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer. J Clin Oncol 2010;28:767-772.