Age-related disease penetrance in a large medullary thyroid cancer family with a codon 609 RET gene mutation

Kevin C. Halling, José A. Bufill, Michael Cotter, Steven A. Artz, A. Betts Carpenter, Daniel J Schaid, Holly Hartman-Adams, Ho Huang Chang, Michael M. Boustany, Linda Fithian, Sissy M. Jhiang, Stephen N Thibodeau

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Background: Familial medullary thyroid cancer (MTC) is a form of type 2 multiple endocrine neoplasia in which individuals develop MTC as the sole phenotypic manifestation of their disease. A previous study has suggested that patients with familial MTC may have a later age of onset (and more indolent course) of MTC than is observed in individuals with multiple endocrine neoplasia type 2A. Methods and Results: The age-related penetrance of MTC, C-cell hyperplasia, and a positive pentagastrin test for carriers of a codon 609 mutation of the RET gene in a large MTC family was determined. Pentagastrin testing and surgical pathology findings for patients who had thyroidectomies were correlated with RET sequence analysis findings. The penetrance of this mutation for the development of MTC was 0% at age 20, 10% at age 30, 50% at age 45, and approximately 100% at age 60. The ages of onset of C-cell hyperplasia and a positive pentagastrin stimulation test were similar, and both preceded the age of onset of MTC. Carriers of the mutated gene in this family had a later age of onset of disease than has been reported for families with multiple endocrine neoplasia type 2A and 2B syndromes. Conclusions: These results may have implications for the clinical management of MTC families with a 609 mutation.

Original languageEnglish (US)
Pages (from-to)277-286
Number of pages10
JournalMolecular Diagnosis
Volume2
Issue number4
StatePublished - 1997

Fingerprint

Penetrance
Codon
Mutation
Multiple Endocrine Neoplasia Type 2a
Age of Onset
Pentagastrin
Genes
Hyperplasia
Multiple Endocrine Neoplasia Type 2b
Surgical Pathology
Thyroidectomy
Medullary Thyroid cancer
Sequence Analysis

Keywords

  • C-cell hyperplasia
  • Multiple endocrine neoplasia (type 2)
  • Pentagastrin stimulation testing
  • RET proto-oncogene

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Age-related disease penetrance in a large medullary thyroid cancer family with a codon 609 RET gene mutation. / Halling, Kevin C.; Bufill, José A.; Cotter, Michael; Artz, Steven A.; Betts Carpenter, A.; Schaid, Daniel J; Hartman-Adams, Holly; Chang, Ho Huang; Boustany, Michael M.; Fithian, Linda; Jhiang, Sissy M.; Thibodeau, Stephen N.

In: Molecular Diagnosis, Vol. 2, No. 4, 1997, p. 277-286.

Research output: Contribution to journalArticle

Halling, KC, Bufill, JA, Cotter, M, Artz, SA, Betts Carpenter, A, Schaid, DJ, Hartman-Adams, H, Chang, HH, Boustany, MM, Fithian, L, Jhiang, SM & Thibodeau, SN 1997, 'Age-related disease penetrance in a large medullary thyroid cancer family with a codon 609 RET gene mutation', Molecular Diagnosis, vol. 2, no. 4, pp. 277-286.
Halling, Kevin C. ; Bufill, José A. ; Cotter, Michael ; Artz, Steven A. ; Betts Carpenter, A. ; Schaid, Daniel J ; Hartman-Adams, Holly ; Chang, Ho Huang ; Boustany, Michael M. ; Fithian, Linda ; Jhiang, Sissy M. ; Thibodeau, Stephen N. / Age-related disease penetrance in a large medullary thyroid cancer family with a codon 609 RET gene mutation. In: Molecular Diagnosis. 1997 ; Vol. 2, No. 4. pp. 277-286.
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AU - Bufill, José A.

AU - Cotter, Michael

AU - Artz, Steven A.

AU - Betts Carpenter, A.

AU - Schaid, Daniel J

AU - Hartman-Adams, Holly

AU - Chang, Ho Huang

AU - Boustany, Michael M.

AU - Fithian, Linda

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AU - Thibodeau, Stephen N

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