Familial Medullary Thyroid Carcinoma with Noncysteine RET Mutations: Phenotype-Genotype Relationship in a Large Series of Patients

Abstract excerpt

Familial medullary thyroid carcinoma only is related to germline mutations in the protooncogene RET, mainly in exons 10, whereas noncysteine mutations (exons 13–15) are considered infrequent. We analyzed 148 patients from 47 familial medullary thyroid carcinoma only families, and we found noncysteine RET mutations in 59.5% of these families. Of the index cases with noncysteine mutations, 43.4% presented with a mul...

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• BRCA gene mutations in cancer
• Thyroid Cancer Diagnosis and Treatment

Identifiers and source

Literature Corpus work

23017a54-698e-50b1-8fb1-81423683afc4

DOI

10.1210/jc.86.8.3746