Homozygosity for the pathogenic RET hotspot variant p.Cys634Trp: A consanguineous family with MEN2A
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference11 articles.
1. A homozygous RET K666N genotype with an MEN2A phenotype;Jaber;J. Clin. Endocrinol. Metab.,2018
2. RET gene mutations (genotype and phenotype) of multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma;Krampitz;Cancer,2014
3. V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expression of the disease only in the homozygous gene carriers;Lecube;Surgery,2002
4. Rmline homozygous mutations at codon 804 in the RET protooncogene in medullary thyroid carcinoma/multiple endocrine neoplasia type 2A patients;Lesueur;J. Clin. Endocrinol. Metab.,2005
5. Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation;Milos;Endocr. Relat. Canc.,2008
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1. Genotype-specific development of MEN 2 constituent components in 683 RET carriers;Endocrine-Related Cancer;2024-05-16
2. Accelerated MEN2A in homozygous RET carriers in the context of consanguinity;European Journal of Endocrinology;2024-03
3. The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?;International Journal of Molecular Sciences;2024-02-05
4. Multiple endocrine neoplasia type 2: towards a risk-based approach integrating molecular and biomarker results;Current Opinion in Oncology;2023-11-03
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