Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation

Oliver Gimm, Debbie J. Marsh, Scott D. Andrew, Andrea Frilling, Patricia L Dahia, Lois M. Mulligan, Jeffrey D. Zajac, Bruce G. Robinson, Charis Eng

Research output: Contribution to journalArticle

177 Citations (Scopus)

Abstract

The autosomal dominant multiple endocrine neoplasia type 2 syndromes (MEN 2) comprise three clinically distinct entities, MEN 2A, familial medullary thyroid carcinoma and MEN 2B, which share a common clinical feature: medullary thyroid carcinoma (MTC). MEN 2B is considered to have the most aggressive form of MTC. Therefore, early detection of MEN 2B in order to prevent potentially lethal MTC is important. More than 95% of all MEN 2B cases are caused by germline mutation at codon 918 (M918T) in exon 16 of the RET proto-oncogene. In this study, we demonstrate the presence of germline codon 883 mutation (A883F) in 2 of 3 unrelated MEN 2B eases without codon 918 mutation. Our data demonstrate a novel etiologic event which may have roles in predisposition to MEN 2B when present in the germline and in the pathogenesis of sporadic MTC when somatic.

Original languageEnglish (US)
Pages (from-to)3902-3904
Number of pages3
JournalJournal of Clinical Endocrinology and Metabolism
Volume82
Issue number11
StatePublished - 1997
Externally publishedYes

Fingerprint

Multiple Endocrine Neoplasia Type 2b
Proto-Oncogenes
Germ-Line Mutation
Codon
Exons
Mutation
Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia
Medullary Thyroid cancer

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. / Gimm, Oliver; Marsh, Debbie J.; Andrew, Scott D.; Frilling, Andrea; Dahia, Patricia L; Mulligan, Lois M.; Zajac, Jeffrey D.; Robinson, Bruce G.; Eng, Charis.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 82, No. 11, 1997, p. 3902-3904.

Research output: Contribution to journalArticle

Gimm, O, Marsh, DJ, Andrew, SD, Frilling, A, Dahia, PL, Mulligan, LM, Zajac, JD, Robinson, BG & Eng, C 1997, 'Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation', Journal of Clinical Endocrinology and Metabolism, vol. 82, no. 11, pp. 3902-3904.
Gimm, Oliver ; Marsh, Debbie J. ; Andrew, Scott D. ; Frilling, Andrea ; Dahia, Patricia L ; Mulligan, Lois M. ; Zajac, Jeffrey D. ; Robinson, Bruce G. ; Eng, Charis. / Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. In: Journal of Clinical Endocrinology and Metabolism. 1997 ; Vol. 82, No. 11. pp. 3902-3904.
@article{f6b1385cdb714a7a8e6c46fbc2ee5419,
title = "Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation",
abstract = "The autosomal dominant multiple endocrine neoplasia type 2 syndromes (MEN 2) comprise three clinically distinct entities, MEN 2A, familial medullary thyroid carcinoma and MEN 2B, which share a common clinical feature: medullary thyroid carcinoma (MTC). MEN 2B is considered to have the most aggressive form of MTC. Therefore, early detection of MEN 2B in order to prevent potentially lethal MTC is important. More than 95{\%} of all MEN 2B cases are caused by germline mutation at codon 918 (M918T) in exon 16 of the RET proto-oncogene. In this study, we demonstrate the presence of germline codon 883 mutation (A883F) in 2 of 3 unrelated MEN 2B eases without codon 918 mutation. Our data demonstrate a novel etiologic event which may have roles in predisposition to MEN 2B when present in the germline and in the pathogenesis of sporadic MTC when somatic.",
author = "Oliver Gimm and Marsh, {Debbie J.} and Andrew, {Scott D.} and Andrea Frilling and Dahia, {Patricia L} and Mulligan, {Lois M.} and Zajac, {Jeffrey D.} and Robinson, {Bruce G.} and Charis Eng",
year = "1997",
language = "English (US)",
volume = "82",
pages = "3902--3904",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "The Endocrine Society",
number = "11",

}

TY - JOUR

T1 - Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation

AU - Gimm, Oliver

AU - Marsh, Debbie J.

AU - Andrew, Scott D.

AU - Frilling, Andrea

AU - Dahia, Patricia L

AU - Mulligan, Lois M.

AU - Zajac, Jeffrey D.

AU - Robinson, Bruce G.

AU - Eng, Charis

PY - 1997

Y1 - 1997

N2 - The autosomal dominant multiple endocrine neoplasia type 2 syndromes (MEN 2) comprise three clinically distinct entities, MEN 2A, familial medullary thyroid carcinoma and MEN 2B, which share a common clinical feature: medullary thyroid carcinoma (MTC). MEN 2B is considered to have the most aggressive form of MTC. Therefore, early detection of MEN 2B in order to prevent potentially lethal MTC is important. More than 95% of all MEN 2B cases are caused by germline mutation at codon 918 (M918T) in exon 16 of the RET proto-oncogene. In this study, we demonstrate the presence of germline codon 883 mutation (A883F) in 2 of 3 unrelated MEN 2B eases without codon 918 mutation. Our data demonstrate a novel etiologic event which may have roles in predisposition to MEN 2B when present in the germline and in the pathogenesis of sporadic MTC when somatic.

AB - The autosomal dominant multiple endocrine neoplasia type 2 syndromes (MEN 2) comprise three clinically distinct entities, MEN 2A, familial medullary thyroid carcinoma and MEN 2B, which share a common clinical feature: medullary thyroid carcinoma (MTC). MEN 2B is considered to have the most aggressive form of MTC. Therefore, early detection of MEN 2B in order to prevent potentially lethal MTC is important. More than 95% of all MEN 2B cases are caused by germline mutation at codon 918 (M918T) in exon 16 of the RET proto-oncogene. In this study, we demonstrate the presence of germline codon 883 mutation (A883F) in 2 of 3 unrelated MEN 2B eases without codon 918 mutation. Our data demonstrate a novel etiologic event which may have roles in predisposition to MEN 2B when present in the germline and in the pathogenesis of sporadic MTC when somatic.

UR - http://www.scopus.com/inward/record.url?scp=0030722592&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030722592&partnerID=8YFLogxK

M3 - Article

C2 - 9360560

AN - SCOPUS:0030722592

VL - 82

SP - 3902

EP - 3904

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 11

ER -