ArticleWorld journal of surgery2007
Codon Y791F mutations in a large kindred: is prophylactic thyroidectomy always indicated?
Article in World journal of surgery, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 17 citations in OpenAlex.
- Article
- Results and Clinical Interpretation of GermlineCancers · 2020Article
- Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.Thyroid : official journal of the American Thyroid Association · 2017Article
- Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.Endocrine-related cancer · 2015Article
- Prevalence by age and predictors of medullary thyroid cancer in patients with lower risk germline RET proto-oncogene mutations.Thyroid : official journal of the American Thyroid Association · 2014Article
- RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest.Endocrine · 2009Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRET proto-oncogene mutations are associated with medullary thyroid carcinomas usually requiring preventive thyroidectomy in gene carriers. We present a large kindred with the Y791F mutation in the RET proto-oncogene that did not have medullary thyroid carcinomas. PATIENTS AND
methodsEight members of a Danish family with the Y791F mutation participated. All gene carriers underwent pentagastrin testing, and measurements of serum calcitonin. In the index person, exons 10, 11, and 13-16 of the RET proto-oncogene were screened. In the rest of the individuals only exon 13 was analysed. Mutation analysis was done by direct bidirectional sequencing of PCR products on an ABI 3100 Genetic Analyzer (Applied Biosystems, Foster City, CA, USA).
resultsThe index person was screened genetically due to goitre at a young age. A total of 27 members of the family underwent genetic testing. Twelve (44.4%, 95% CI: 25.5%-64.7%) had the mutation (age range 13-84 years). None of these had abnormal pentagastrin tests (0%, 95% CI: 0%-26.5%). We found no significant differences in basal serum calcitonin concentrations between gene carriers (mean +/- SD: 0.16 +/- 0.54 pmol/l, n = 11) and non-gene carriers (0.55 +/- 0.86 pmol/l, n = 6, 2 P = 0.29). None showed signs of primary hyperparathyroidism or phaeochromocytoma.
conclusionsThe Y791F RET proto-oncogene mutation may have a low penetrance. In selected cases, prophylactic thyroidectomy may be replaced by watchful waiting with repeated pentagastrin testing, provided careful evaluation of risks and benefits is performed.
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