Clinical use of molecular information in the management of multiple endocrine neoplasia type 2A

R. F. Gagel; G. J. Cote; M. J.G. Martins Bugalho; A. E. Boyd; T. Cummings; H. Goepfert; D. B. Evans; A. Cangir; S. Khorana; P. N. Schultz

doi:10.1111/j.1365-2796.1995.tb01207.x

Clinical use of molecular information in the management of multiple endocrine neoplasia type 2A

R. F. Gagel, G. J. Cote, M. J.G. Martins Bugalho, A. E. Boyd, T. Cummings, H. Goepfert, D. B. Evans, A. Cangir, S. Khorana, P. N. Schultz

Endocrine Neoplasia & HD

Research output: Contribution to journal › Article › peer-review

67 Scopus citations

Abstract

One hundred and ninety-seven members of 28 kindreds with multiple endocrine neoplasia type 2A (MEN 2A) were screened for RET proto-oncogene exon 10 and 11 mutations. Seventy-one known affected individuals had mutations of codons 609, 618, 620 or 634, whereas 53 unaffected individuals had no abnormalities. Nineteen out of 54 individuals of unknown status, mostly children, had RET mutations. Four of these children had thyroidectomy based on this analysis and were found to have C-cell abnormalities. We identified one false negative mutation analysis because of a codon 691 polymorphism. We conclude that RET mutational analysis is a cost-effective and accurate method for determination of gene carrier status in MEN 2A.

Original language	English (US)
Pages (from-to)	333-341
Number of pages	9
Journal	Journal of Internal Medicine
Volume	238
Issue number	4
DOIs	https://doi.org/10.1111/j.1365-2796.1995.tb01207.x
State	Published - 1995

Keywords

Genetic screening
Hyperparathyroidism
Medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Mutation analysis
Pheochromocytoma
RET proto-oncogene

ASJC Scopus subject areas

Internal Medicine

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10.1111/j.1365-2796.1995.tb01207.x

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title = "Clinical use of molecular information in the management of multiple endocrine neoplasia type 2A",

abstract = "One hundred and ninety-seven members of 28 kindreds with multiple endocrine neoplasia type 2A (MEN 2A) were screened for RET proto-oncogene exon 10 and 11 mutations. Seventy-one known affected individuals had mutations of codons 609, 618, 620 or 634, whereas 53 unaffected individuals had no abnormalities. Nineteen out of 54 individuals of unknown status, mostly children, had RET mutations. Four of these children had thyroidectomy based on this analysis and were found to have C-cell abnormalities. We identified one false negative mutation analysis because of a codon 691 polymorphism. We conclude that RET mutational analysis is a cost-effective and accurate method for determination of gene carrier status in MEN 2A.",

keywords = "Genetic screening, Hyperparathyroidism, Medullary thyroid carcinoma, Multiple endocrine neoplasia type 2A, Mutation analysis, Pheochromocytoma, RET proto-oncogene",

author = "Gagel, {R. F.} and Cote, {G. J.} and {Martins Bugalho}, {M. J.G.} and Boyd, {A. E.} and T. Cummings and H. Goepfert and Evans, {D. B.} and A. Cangir and S. Khorana and Schultz, {P. N.}",

year = "1995",

doi = "10.1111/j.1365-2796.1995.tb01207.x",

language = "English (US)",

volume = "238",

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AU - Gagel, R. F.

AU - Cote, G. J.

AU - Martins Bugalho, M. J.G.

AU - Boyd, A. E.

AU - Cummings, T.

AU - Goepfert, H.

AU - Evans, D. B.

AU - Cangir, A.

AU - Khorana, S.

AU - Schultz, P. N.

PY - 1995

Y1 - 1995

N2 - One hundred and ninety-seven members of 28 kindreds with multiple endocrine neoplasia type 2A (MEN 2A) were screened for RET proto-oncogene exon 10 and 11 mutations. Seventy-one known affected individuals had mutations of codons 609, 618, 620 or 634, whereas 53 unaffected individuals had no abnormalities. Nineteen out of 54 individuals of unknown status, mostly children, had RET mutations. Four of these children had thyroidectomy based on this analysis and were found to have C-cell abnormalities. We identified one false negative mutation analysis because of a codon 691 polymorphism. We conclude that RET mutational analysis is a cost-effective and accurate method for determination of gene carrier status in MEN 2A.

AB - One hundred and ninety-seven members of 28 kindreds with multiple endocrine neoplasia type 2A (MEN 2A) were screened for RET proto-oncogene exon 10 and 11 mutations. Seventy-one known affected individuals had mutations of codons 609, 618, 620 or 634, whereas 53 unaffected individuals had no abnormalities. Nineteen out of 54 individuals of unknown status, mostly children, had RET mutations. Four of these children had thyroidectomy based on this analysis and were found to have C-cell abnormalities. We identified one false negative mutation analysis because of a codon 691 polymorphism. We conclude that RET mutational analysis is a cost-effective and accurate method for determination of gene carrier status in MEN 2A.

KW - Genetic screening

KW - Hyperparathyroidism

KW - Medullary thyroid carcinoma

KW - Multiple endocrine neoplasia type 2A

KW - Mutation analysis

KW - Pheochromocytoma

KW - RET proto-oncogene

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Clinical use of molecular information in the management of multiple endocrine neoplasia type 2A

Abstract

Keywords

ASJC Scopus subject areas

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