Genotype-phenotype correlation in multiple endocrine neoplasia type 2: Report of the International RET Mutation Consortium

L. M. Mulligan; D. J. Marsh; B. G. Robinson; I. Schuffenecker; J. Zedenius; C. J.M. Lips; R. F. Gagel; S. I. Takai; W. W. Noll; M. Fink; F. Raue; A. Lacroix; S. N. Thibodeau; A. Frilling; B. A.J. Ponder; C. Eng

doi:10.1111/j.1365-2796.1995.tb01208.x

Genotype-phenotype correlation in multiple endocrine neoplasia type 2: Report of the International RET Mutation Consortium

L. M. Mulligan, D. J. Marsh, B. G. Robinson, I. Schuffenecker, J. Zedenius, C. J.M. Lips, R. F. Gagel, S. I. Takai, W. W. Noll, M. Fink, F. Raue, A. Lacroix, S. N. Thibodeau, A. Frilling, B. A.J. Ponder, C. Eng

Laboratory Medicine and Pathology

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

239 Scopus citations

Abstract

The International RET Mutation Consortium was first convened as part of the Fifth International Workshop on Multiple Endocrine Neoplasia, Stockholm, Sweden, in an attempt to analyse the relationship of RET mutation and disease phenotype in the autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN 2) syndromes. Out of 361 families studied, 41% had MEN 2A, 17.7% MEN 2B, 6.4% FMTC and the remaining subjects were unclassified. RET mutations were detected in 87.3% of families overall. Over 93% of MEN 2B families had the RET 918 ATG → ACG mutation, while the most frequent mutation detected in MEN 2A families was cysteine codon 634 (87% of all mutations).

Original language	English (US)
Pages (from-to)	343-346
Number of pages	4
Journal	Journal of Internal Medicine
Volume	238
Issue number	4
DOIs	https://doi.org/10.1111/j.1365-2796.1995.tb01208.x
State	Published - 1995

Keywords

Inherited cancer syndrome
MEN 2
RET

ASJC Scopus subject areas

Internal Medicine

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10.1111/j.1365-2796.1995.tb01208.x

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Mulligan, L. M., Marsh, D. J., Robinson, B. G., Schuffenecker, I., Zedenius, J., Lips, C. J. M., Gagel, R. F., Takai, S. I., Noll, W. W., Fink, M., Raue, F., Lacroix, A., Thibodeau, S. N., Frilling, A., Ponder, B. A. J., & Eng, C. (1995). Genotype-phenotype correlation in multiple endocrine neoplasia type 2: Report of the International RET Mutation Consortium. Journal of Internal Medicine, 238(4), 343-346. https://doi.org/10.1111/j.1365-2796.1995.tb01208.x

Mulligan, LM, Marsh, DJ, Robinson, BG, Schuffenecker, I, Zedenius, J, Lips, CJM, Gagel, RF, Takai, SI, Noll, WW, Fink, M, Raue, F, Lacroix, A, Thibodeau, SN, Frilling, A, Ponder, BAJ & Eng, C 1995, 'Genotype-phenotype correlation in multiple endocrine neoplasia type 2: Report of the International RET Mutation Consortium', Journal of Internal Medicine, vol. 238, no. 4, pp. 343-346. https://doi.org/10.1111/j.1365-2796.1995.tb01208.x

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title = "Genotype-phenotype correlation in multiple endocrine neoplasia type 2: Report of the International RET Mutation Consortium",

abstract = "The International RET Mutation Consortium was first convened as part of the Fifth International Workshop on Multiple Endocrine Neoplasia, Stockholm, Sweden, in an attempt to analyse the relationship of RET mutation and disease phenotype in the autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN 2) syndromes. Out of 361 families studied, 41% had MEN 2A, 17.7% MEN 2B, 6.4% FMTC and the remaining subjects were unclassified. RET mutations were detected in 87.3% of families overall. Over 93% of MEN 2B families had the RET 918 ATG → ACG mutation, while the most frequent mutation detected in MEN 2A families was cysteine codon 634 (87% of all mutations).",

keywords = "Inherited cancer syndrome, MEN 2, RET",

author = "Mulligan, {L. M.} and Marsh, {D. J.} and Robinson, {B. G.} and I. Schuffenecker and J. Zedenius and Lips, {C. J.M.} and Gagel, {R. F.} and Takai, {S. I.} and Noll, {W. W.} and M. Fink and F. Raue and A. Lacroix and Thibodeau, {S. N.} and A. Frilling and Ponder, {B. A.J.} and C. Eng",

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doi = "10.1111/j.1365-2796.1995.tb01208.x",

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AU - Lips, C. J.M.

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AU - Takai, S. I.

AU - Noll, W. W.

AU - Fink, M.

AU - Raue, F.

AU - Lacroix, A.

AU - Thibodeau, S. N.

AU - Frilling, A.

AU - Ponder, B. A.J.

AU - Eng, C.

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Genotype-phenotype correlation in multiple endocrine neoplasia type 2: Report of the International RET Mutation Consortium

Abstract

Keywords

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