ArticleAnnals of surgery1994
Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A.
Article in Annals of surgery, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
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Who cites it
63 citing papers in PubMed, 446 citations in OpenAlex.
- Vandetanib in children and adolescents with multiple endocrine neoplasia type 2B associated medullary thyroid carcinoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2013Trial
- Hereditary medullary thyroid cancer in Slovenia--genotype-phenotype correlations.Wiener klinische Wochenschrift · 2006Trial
- Patterns of nodal metastases in palpable medullary thyroid carcinoma: recommendations for extent of node dissection.Annals of surgery · 1999Trial
- MEN2: surgical precision in the era of precision medicine.Endocrine-related cancer · 2025Review
- [30 years of prophylactic thyroidectomy for hereditary medullary thyroid cancer : A milestone in translational medicine].Chirurgie (Heidelberg, Germany) · 2024Review
- Jeffrey A. Norton and the Multiple Endocrine Neoplasia Syndromes.Annals of surgical oncology · 2024Article
- Endocrine surgery and the surgeon-scientist: Bridging the gap between a rich history and a bright future.American journal of surgery · 2023Article
- Article
- 100-Year evolution of precision medicine and surgery for multiple endocrine neoplasia type 2A.Endocrine · 2020Article
- Medullary Thyroid Carcinoma: Why Is Specialization Mandatory?Visceral medicine · 2018Review
- Calcium-stimulated calcitonin - The "new standard" in the diagnosis of thyroid C-cell disease - clinically relevant gender-specific cut-off levels for an "old test".Biochemia medica · 2018Article
- Multiple Endocrine Neoplasia: Genetics and Clinical Management.Surgical oncology clinics of North America · 2015Review
- Management of the Parathyroid Glands During Preventive Thyroidectomy in Patients With Multiple Endocrine Neoplasia Type 2.Annals of surgery · 2015Article
- Timing and extent of thyroid surgery for gene carriers of hereditary C cell disease--a consensus statement of the European Society of Endocrine Surgeons (ESES).Langenbeck's archives of surgery · 2014Article
- Translational research in endocrine surgery.Surgical oncology clinics of North America · 2013Review
- German Association of Endocrine Surgeons practice guideline for the surgical management of malignant thyroid tumors.Langenbeck's archives of surgery · 2013Review
- Multiple endocrine neoplasias type 2B and RET proto-oncogene.Italian journal of pediatrics · 2012Review
- Management of medullary thyroid carcinoma and MEN2 syndromes in childhood.Nature reviews. Endocrinology · 2011Review
- The evolution of biomarkers in thyroid cancer-from mass screening to a personalized biosignature.Cancers · 2010Article
- Management of thyroid cancers.Indian journal of surgical oncology · 2010Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 4 countries.
Funding
Abstract
backgroundMissense germ-line mutations in the RET protooncogene are associated with multiple endocrine neoplasia type 2A (MEN 2A). Detection of these mutant alleles in kindred members predicts disease inheritance and provides the basis for preventative thyroidectomy.
methodsA polymerase chain reaction (PCR)-based genetic test for the 19 known RET mutations was designed to study 132 members of 7 kindreds with MEN 2A. Haplotypes also were constructed using genetic markers flanking the MEN 2A locus. Plasma calcitonin (CT) concentrations were determined before and after provocative testing.
resultsDirect DNA testing and haplotype analysis showed that 21 of 58 kindred members at risk for disease had inherited a mutation in the RET protooncogene associated with MEN 2A. Plasma CT concentrations were elevated in 9 of the 21 family members, but were normal in 12. After genetic counseling, 13 of the 21 kindred members (6 with normal and seven with elevated plasma CT levels), consented to immediate thyroidectomy. In each patient, the resected thyroid gland showed C-cell hyperplasia with or without medullary thyroid carcinoma. There were no metastases to regional lymph nodes, and postoperative stimulated plasma CT levels were normal.
conclusionThe PCR-based direct DNA test for RET mutations is accurate, rapid, and reproducible. For all 132 individuals evaluated, the results of direct DNA analysis were consistent with haplotype studies. The direct test for mutations in the RET protooncogene is the preferred method for screening MEN 2A kindreds. In family members who have inherited a RET mutation, total thyroidectomy is indicated, regardless of the plasma CT values.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.