Human piebaldism: six novel mutations of the proto-oncogene KIT
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چکیده
منابع مشابه
THE 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 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 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 کاملc-kit proto-oncogene exon 8 in-frame deletion plus insertion mutations in acute myeloid leukaemia.
Genomic DNA from 60 cases of acute myeloid leukaemia (AML) was screened for mutations in the c-kit gene. DNA from all 21 exons was subjected to polymerase chain reaction (PCR) amplification and analysis by conformation sensitive gel electrophoresis (CSGE); exons showing altered CSGE patterns were then sequenced. Mutations were identified only in those patients with inv(16) (3/7 cases) or t(8;21...
متن کاملNovel KIT Missense Mutation P665S in a Chinese Piebaldism Family
Vol. 29, No. 6, 2017 801 Received July 27, 2016, Revised October 10, 2016, Accepted for publication October 31, 2016 Corresponding author: Yanhua Liang, Department of Dermatology, Shenzhen Hospital of Southern Medical University, 1333 Xinhu Road, Shenzhen, Guangdong 518100, China. Tel: 86-755-23360448, Fax: 86-755-23360448, E-mail: [email protected] This is an Open Access article distributed ...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2002
ISSN: 1059-7794
DOI: 10.1002/humu.9057