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01-01-2010 | Endocrine Tumors

RET Germline Mutations in Codon 609 and MEN2A Phenotype: Are They All Created Equal?

Authors: Andreas Machens, MD, Henning Dralle, MD

Published in: Annals of Surgical Oncology | Issue 1/2010

Excerpt

Recently, Calva et al. presented clinical information on 16 of 38 carriers harboring mutations in codon 609 of the rearranged during transfection (RET) proto-oncogene1. The authors also reviewed the literature, without considering the possibility that some carriers may have been described in more than one publication. Without formal statistic testing, the authors concluded that the “more aggressive” glycine and serine substitutions for the cysteine at codon 609 entailed a higher risk than arginine and tyrosine substitutions1. A careful review of the evidence suggests that this conclusion may be flawed. …

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Ito S, Iwashita T, Asai N, Murakami H, Iwata Y, Sobue G, et al. Biological properties of RET with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung’s disease phenotype. Cancer Res. 1997;57:2870–2.PubMed

Title: RET Germline Mutations in Codon 609 and MEN2A Phenotype: Are They All Created Equal?
Authors: Andreas Machens, MD
Henning Dralle, MD
Publication date: 01-01-2010
Publisher: Springer-Verlag
Published in: Annals of Surgical Oncology / Issue 1/2010
Print ISSN: 1068-9265
Electronic ISSN: 1534-4681
DOI: https://doi.org/10.1245/s10434-009-0752-6

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RET Germline Mutations in Codon 609 and MEN2A Phenotype: Are They All Created Equal?

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