A Vietnamese MEN2A syndrome patient with C634G germline mutation of the RET proto-oncogene
نویسندگان
چکیده
منابع مشابه
[Phenotype of the C634Y mutation in the RET proto-oncogene in MEN2A: report of a family].
BACKGROUND AND OBJECTIVES Genetic testing of RET proto-oncogen allows an early diagnosis of Multiple Endocrine Neoplasia syndrome type 2 and establish a correlation between genotype and clinical manifestations. The purpose of this study was to demonstrate the benefits of an early diagnosis with genetic testing followed by prompt surgery on the cure of MTC versus a later diagnosis with serum cal...
متن کاملRET Proto-Oncogene
Hereditary medullary thyroid carcinoma (MTC) is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. Associations between specific RET mutations (genotype) and the aggressiveness of MTC and presence or absence of other endocrine neoplasms (phenotype) are well documented. Mutations in six exons (10, 11, 13, 14, 15, and 16) located in either cysteine-rich or tyrosine...
متن کاملRET proto oncogene mutation detection and medullary thyroid carcinoma prevention.
Thyroid cancer is the most common endocrine neoplasia. The medullary thyroid carcinoma (MTC) is one of the most aggressive forms of thyroid malignancy,accounting for up to 10% of all types of this disease. The mode of inheritance of MTC is autosomal dominantly and gain of function mutations in the RET proto-oncogene are well known to contribute to its development. MTC occurs as hereditary (25%)...
متن کاملRET proto-oncogene mutations in the diagnosis of medullary thyroid cancer: a review article
Medullary thyroid cancer accounts for 5-10% of thyroid carcinomas. RET proto-oncogene mutations occur in all of the hereditary MTCs and about 66% of the sporadic MTCs. So, the detection of the RET mutations is necessary for rapid and proper diagnosis and treatment. This systematic review seeks to find a comprehensive list of RET gene mutations in the diagnosis of medullary thyroid cancer. The ...
متن کاملAssociation of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients.
The idiopathic congenital central hypoventilation syndrome (CCHS) was first described by Mellins et al and is characterised by an alteration of the ventilatory response to hypercapnia and hypoxia. Whereas normal ventilation is adequate in many of the patients during wakefulness, the alveolar hypoventilation observed during sleep seems attributable to a failure of the central autonomic control o...
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ژورنال
عنوان ژورنال: Journal of Clinical and Translational Endocrinology: Case Reports
سال: 2019
ISSN: 2214-6245
DOI: 10.1016/j.jecr.2019.100053