Association between Germline Mutations in the RET Proto-Oncogene and Colorectal Cancer and Polyps
نویسندگان
چکیده
منابع مشابه
RET 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 کاملUncommon association of germline mutations of RET proto-oncogene and CDKN2A gene.
INTRODUCTION Calcitonin measurement is advised in the diagnosis of thyroid nodules, as it is an accurate marker of medullary thyroid carcinoma (MTC). C-cell hyperplasia (CCH)-induced hypercalcitoninemia cannot be distinguished from that induced by MTC, unless surgery is performed. CASE We report the clinical and biological features of a patient with a family history of cancer, including melan...
متن کاملTHE MUTATIONS OF RET PROTO-ONCOGENE IN MEDULLARY THYROID CARCINOMAS IN IRAN
MeduIIary thyroid carcinoma (MTC) occurs both sporadically and in the autosomal dominantly inherited multiple endocrine neoplasia (MEN) type 2 syndromes. The distinction between true sporadic MTC and a new mutation familial case is important for future clinical management of both the patient and family. The susceptibility gene for hereditary MTC is the RET proto-oncogene. DNA analysis for g...
متن کاملPoint Mutations in RET Proto-Oncogene Exon 10 in Patients with Medullary Thyroid Carcinoma
Background & Aims: Thyroid cancer is the most common endocrine malignancy. Medullary thyroid carcinoma (MTC) is an aggressive malignant tumor arising from parafollicular cells of the thyroid. MTC occurs in hereditary (25%, hMTC) or sporadic (75%, sMTC) forms. The hMTC form has an autosomal dominant inheritance. RET proto-oncogene mutations, especially the 10, 11, and 16 exones, are associated w...
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Advanced Research in Gastroenterology & Hepatology
سال: 2019
ISSN: 2472-6400
DOI: 10.19080/argh.2019.12.555835