The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
Clinical Screening as Compared with DNA Analysis in Families with Multiple Endocrine Neoplasia Type 2A
Abstract
BACKGROUND: Multiple endocrine neoplasia type 2A (MEN-2A) is characterized by medullary thyroid carcinoma in combination with pheochromocytoma and sometimes parathyroid adenoma. Missense mutations in the RET proto-oncogene are associated with MEN-2A. Their detection by DNA analysis allows the identification of carriers of the gene, in whom the risk of medullary thyroid carcinoma is 100 percent. We compared the reliability of biochemical tests with that of DNA analysis in identifying carriers of the MEN2A gene. METHODS: Starting in 1975, we screened 300 subjects in four large families with MEN-2A for expression of the disease, using measurements of plasma calcitonin after stimulation with pentagastrin or calcium and urinary excretion of catecholamines and catecholamine metabolites. We tested for carrier status by DNA analysis, including linkage analysis, and more recently by analysis of mutations in the RET gene. RESULTS: Of 80 MEN2A gene carriers (in 61 of whom carrier status was proved by DNA analysis), 66 had abnormal plasma calcitonin values and medullary thyroid carcinoma. Fourteen young carriers had normal results of plasma calcitonin tests. In 8 of these 14, thyroidectomy revealed small foci of medullary thyroid carcinoma; the remaining 6 have not yet been operated on. Of the other 220 family members, 68 were found by DNA analysis not to carry the MEN2A gene. None of these 68 subjects had medullary thyroid carcinoma or pheochromocytoma; 6 had elevated plasma calcitonin concentrations and underwent thyroidectomy but had only C-cell hyperplasia. CONCLUSIONS: Unlike biochemical tests, DNA analysis permits the unambiguous identification of MEN2A gene carriers.
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Cites
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
Mulligan, L. M., Kwok, J. B. J., Healey, C. S., Elsdon, M. J., Eng, C., Gardner, E., Love, D. R., Mole, S. E., Moore, J. K., Papi, L., et al. (1993) · Nature · doi:10.1038/363458a0 · Cited by 1,966
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC
Donis-Keller, H., Dou, S., Chi, D., Carlson, K. M., Toshima, K., Lairmore, T. C., Howe, J. R., Moley, J. F., Goodfellow, P., & Wells, S. A. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.7.851 · Cited by 1,303
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Self-citationEng, C., SmIth, D. P., MullIgan, L. M., Nagal, M. A., Healey, C. S., Ponder, M. A., Gardner, E., Scheumann, G. F. W., Jackson, C. E., Tunnacllffe, A., et al. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.2.237 · Cited by 537
C-Cell Hyperplasia Preceding Medullary Thyroid Carcinoma
Wolfe, H. J., Melvin, K. E. W., Cervi-Skinner, S. J., AL Saadi, A. A., Juliar, J. F., Jackson, C. E., & Tashjian, A. H. (1973) · New England Journal of Medicine · doi:10.1056/nejm197308302890901 · Cited by 449
A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10
Mathew, C. G. P., Chin, K. S., Easton, D. F., Thorpe, K., Carter, C., Liou, G. I., Fong, S.-L., Bridges, C. D. B., Haak, H., Kruseman, A. C. N., et al. (1987) · Nature · doi:10.1038/328527a0 · Cited by 440
Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage
Simpson, N. E., Kidd, K. K., Goodfellow, P. J., McDermid, H., Myers, S., Kidd, J. R., Jackson, C. E., Duncan, A. M. V., Farrer, L. A., Brasch, K., et al. (1987) · Nature · doi:10.1038/328528a0 · Cited by 425
Early Diagnosis of Medullary Carcinoma of the Thyroid Gland by Means of Calcitonin Assay
Melvin, K. E. W., Miller, H. H., & Tashjian, A. H. (1971) · New England Journal of Medicine · doi:10.1056/nejm197111112852004 · Cited by 297
HENNESSY, J. F., WELLS, S. A., ONTJES, D. A., & COOPER, C. W. (1974) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-39-3-487 · Cited by 158
cDNA cloning of mouse ret proto-oncogene and its sequence similarity to the cadherin superfamily.
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Cited by
Guidelines for the management of thyroid cancer
Perros, P., Boelaert, K., Colley, S., Evans, C., Evans, R. M., Gerrard BA, G., Gilbert, J., Harrison, B., Johnson, S. J., Giles, T. E., et al. (2014) · Clinical Endocrinology · doi:10.1111/cen.12515 · Cited by 1,372
Goriely, A., & Wilkie, A. O. M. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.017 · Cited by 365
RET as a Diagnostic and Therapeutic Target in Sporadic and Hereditary Endocrine Tumors
de Groot, J. W. B., Links, T. P., Plukker, J. T. M., Lips, C. J. M., & Hofstra, R. M. W. (2006) · Endocrine Reviews · doi:10.1210/er.2006-0017 · Cited by 356
Self-citationRET Proto-Oncogene in the Development of Human Cancer
Eng, C. (1999) · Journal of Clinical Oncology · doi:10.1200/jco.1999.17.1.380 · Cited by 339
The RET Proto-Oncogene in Multiple Endocrine Neoplasia Type 2 and Hirschsprung's Disease
Eng, C. (1996) · New England Journal of Medicine · doi:10.1056/nejm199609263351307 · Cited by 328
Metadata
- Authors
- Lips, C., Landsvater, R. M., Hoppener, J., Geerdink, R. A., Blijham, G., van Veen, J. M. J.-S., van Gils, A., de Wit, M. J., Zewald, R. A., Berends, M., Beemer, F. A., Brouwers-Smalbraak, J., Jansen, R., van Amstel, H. K. P., van Vroonhoven, T., & Vroom, T. M.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1994-09-29
- Volume
- 331
- Issue
- 13
- Pages
- 828-835
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2020637125
- Cited by
- 454
- References
- 15
- FWCI
- 23.70
- Type
- journal article
- Language
- en
- Open access
- closed
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- Lips, C., Landsvater, R. M., Hoppener, J., Geerdink, R. A., Blijham, G., van Veen, J. M. J.-S., van Gils, A., de Wit, M. J., Zewald, R. A., Berends, M., Beemer, F. A., Brouwers-Smalbraak, J., Jansen, R., van Amstel, H. K. P., van Vroonhoven, T., & Vroom, T. M. (1994). Clinical Screening as Compared with DNA Analysis in Families with Multiple Endocrine Neoplasia Type 2A. New England Journal of Medicine. https://doi.org/10.1056/nejm199409293311302
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