Article
Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families.
Journal of endocrinological investigation - 1 Dec 2013
Valente F O F, Dias da Silva M R, Camacho C P, Kunii I S, Bastos A U, da Fonseca C C N, Simião H P C, Tamanaha R, Maciel R M B, Cerutti J M
Abstract excerpt
BACKGROUND: We previously identified a four-generation family with medullary thyroid cancer (MTC) and a germline p.Y791F RET mutation whose cancer lacked a strong genotype-phenotype correlation. The entire gene coding region of the RET gene should be sequenced when genotype-phenotype discrepancies are observed in patients with multiple endocrine neoplasia type 2 (MEN 2), even if a RET hotspot mutation has been...
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