p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer

CONTEXT: To date, penetrance figures for medullary thyroid cancer (MTC) for variants in rearranged during transfection (RET) have been estimated from families ascertained because of the presence of MTC. OBJECTIVE: To gain estimates of penetrance, unbiased by ascertainment, we analyzed 61 RET mutatio...

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Vydáno v:J Clin Endocrinol Metab
Hlavní autoři: Loveday, Chey, Josephs, Katherine, Chubb, Daniel, Gunning, Adam, Izatt, Louise, Tischkowitz, Marc, Ellard, Sian, Turnbull, Clare
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2018
Témata:
Clinical Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6194854/
https://ncbi.nlm.nih.gov/pubmed/29590403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2017-02529
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