Skip to main content

Multiple Endocrine Neoplasia Types 1 and 2

  • Protocol
Molecular Diagnosis of Genetic Diseases

Part of the book series: Methods in Molecular Medicineā„¢ ((MIMM,volume 92))

  • 712 Accesses

Abstract

Multiple endocrine neoplasia (MEN) is characterized by the occurrence of tumors involving two or more endocrine glands within a single patient. Multiple endocrine neoplasia types 1 (MEN1) and 2 (MEN2) are autosomal dominant cancer syndromes caused by mutations in the MEN1 (1) and RET (2) genes, respectively.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Protocol
USD 49.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Chandrasekharappa, S. C, Guru, S. C, Manickam, P., Olufemi, S. E., Collins, F. S., Emmert-Buck, M. R., et al. (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 276, 404ā€“407.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  2. Mulligan, L. M., Kwok, J. B., Healey, C. S., Elsdon, M. J., Eng, C, Gardner, E., et al. (1993) Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363, 458ā€“460.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  3. Thakker, R. V. (1998) Multiple endocrine neoplasia-syndromes of the twentieth century. J. Clin. Endocrinol. Metab. 83, 2617ā€“2620.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  4. Santoro, M., Carlomagno, F., Romano, A., Bottaro, D. P., Dathan, N. A., Grieco, M., et al. (1995) Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science 267, 381ā€“383.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  5. Edery, P., Lyonnet, S., Mulligan, L. M., Pelet, A., Dow, E., Abel, L., et al. (1994) Mutations of the RET proto-oncogene in Hirschsprungā€™s disease. Nature 367, 378ā€“380.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  6. Hofstra, R. M., Landsvater, R. M., Ceccherini, I., Stulp, R. P., Stelwagen, T, Luo, Y., et al. (1994) A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 367, 375ā€“376.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  7. Gimm, O., Marsh, D. J., Andrew, S. D., Frilling, A., Dahia, P. L., Mulligan, L. M., et al. (1997) Germline dinucleotide mutation in codon 883 of the RET protooncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J. Clin. Endocrinol. Metab. 82, 3902ā€“3904.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  8. Berndt, I., Reuter, M., Saller, B., Frank-Raue, K., Groth, P., Grussendorf, M., et al. (1998) A new hot spot for mutations in the RET proto-oncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J. Clin. Endocrinol. Metab. 83, 770ā€“774.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  9. Bolino, A., Schuffenecker, I., Luo, Y., Seri, M., Silengo, M., Tocco, T, et al. (1995) RET mutations in exons 13 and 14 of FMTC patients. Oncogene 10, 2415ā€“2419.

    PubMedĀ  CASĀ  Google ScholarĀ 

  10. Frilling, A., Hoppner, W., Eng, C, Mulligan, L., Raue, F, and Broelsch, C. E. (1995) Presymptomatic genetic screening in families with multiple endocrine neoplasia type 2. J. Mol. Med. 73, 229ā€“233.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  11. Bassett, J. H., Forbes, S. A., Pannett, A. A., Lloyd, S. E., Christie, P. T., Wooding, C, et al. (1998) Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am. J. Hum. Genet. 62, 232ā€“244.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  12. Eng, C, Mulligan, L. M., Smith, D. P., Healey, C. S., Frilling, A., Raue, F, et al. (1995) Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma. Clin. Endocrinol. (Oxf.) 43, 123ā€“127.

    ArticleĀ  CASĀ  Google ScholarĀ 

  13. Komminoth, P., Kunz, E. K., Matias-Guiu, X., Hiort, O., Christiansen, G., Colomer, A., et al. (1995) Analysis of RET proto-oncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. Cancer 76, 479ā€“489.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  14. Romei, C, Elisei, R., Pinchera, A., Ceccherini, I., Molinaro, E., Mancusi, F, et al. (1996) Somatic mutations of the ret proto-oncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence. J. Clin. Endocrinol. Metab. 81, 1619ā€“1622.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  15. Shirahama, S., Ogura, K., Takami, H., Ito, K., Tohsen, T, Miyauchi, A., et al. (1998) Mutational analysis of the RET proto-oncogene in 71 Japanese patients with medullary thyroid carcinoma. J. Hum. Genet. 43, 101ā€“106.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  16. Zedenius, J., Wallin, G., Hamberger, B., Nordenskjold, M., Weber, G, and Larsson, C. (1994) Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTCs. Hum. Mol. Genet. 3, 1259ā€“1262

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  17. Scurini, C, Quadro, L., Fattoruso, O., Verga, U., Libroia, A., Lupoli, G, et al. (1998) Germline and somatic mutations of the RET proto-oncogene in apparently sporadic medullary thyroid carcinomas. Mol. Cell. Endocrinol. 137, 51ā€“57.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  18. Utiger, R. D. (1994) Medullary thyroid carcinoma, genes, and the prevention of cancer. N. Engl. J. Med. 331, 870ā€“871.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  19. McMahon, R., Mulligan, L. M., Healey, C. S., Payne, S. J., Ponder, M., Ferguson-Smith, M. A., et al. (1994) Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families. Hum. Mol. Genet. 3, 643ā€“646.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  20. Teh, B. T, Esapa, C. T, Houlston, R., Grandell, U., Farnebo, F, Nordenskjold, M., et al. (1998) A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors. Am. J. Hum. Genet. 63, 1544ā€“1549.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  21. Lemmens, I., Van de Ven, W. J., Kas, K., Zhang, C. X., Giraud, S., Wautot, V., et al. (1997) Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Hum. Mol. Genet. 6, 1177ā€“1183.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  22. Agarwal, S. K., Kester, M. B., Debelenko, L. V., Heppner, C, Emmert-Buck, M. R., Skarulis, M. C, et al. (1997) Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum. Mol. Genet. 6, 1169ā€“1175.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  23. Ceccherini, I., Hofstra, R. M., Luo, Y., Stulp, R. P., Barone, V., Stelwagen, T, et al. (1994) DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene 9, 3025ā€“3029.

    PubMedĀ  CASĀ  Google ScholarĀ 

  24. Larsson, C, Calender, A., Grimmond, S., Giraud, S., Hayward, N. K., Teh, B., et al. (1995) Molecular tools for presymptomatic testing in multiple endocrine neoplasia type 1. J. Intern. Med. 238, 239ā€“244.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

  25. Courseaux, A., Grosgeorge, J., Gaudray, P., Pannett, A. A., Forbes, S. A., Williamson, C, et al. (1996) Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. The European Consortium on MEN1, (GENEM 1; Groupe ďEtude des Neoplasies Endocriniennes Multiples de type 1). Genomics 37, 354ā€“365.

    ArticleĀ  PubMedĀ  CASĀ  Google ScholarĀ 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

Ā© 2004 Humana Press Inc.

About this protocol

Cite this protocol

Ellard, S. (2004). Multiple Endocrine Neoplasia Types 1 and 2. In: Elles, R., Mountford, R. (eds) Molecular Diagnosis of Genetic Diseases. Methods in Molecular Medicineā„¢, vol 92. Humana Press, Totowa, NJ. https://doi.org/10.1385/1-59259-432-8:267

Download citation

  • DOI: https://doi.org/10.1385/1-59259-432-8:267

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-0-89603-932-2

  • Online ISBN: 978-1-59259-432-0

  • eBook Packages: Springer Protocols

Publish with us

Policies and ethics