原创力文档ret germline mutations identified by exome sequencing in a chinese multiple endocrine neoplasia type 2afamilial medullary thyroid carcinoma familyret的种系突变外显子组测序在中国多发性内分泌瘤2型afamilial甲状腺髓样癌的家庭.pdfVIP
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ret germline mutations identified by exome sequencing in a chinese multiple endocrine neoplasia type 2afamilial medullary thyroid carcinoma familyret的种系突变外显子组测序在中国多发性内分泌瘤2型afamilial甲状腺髓样癌的家庭
RET Germline Mutations Identified by Exome Sequencing
in a Chinese Multiple Endocrine Neoplasia Type 2A/
Familial Medullary Thyroid Carcinoma Family
1 1 2 3 1 1
Xiao-Ping Qi *, Ju-Ming Ma , Zhen-Fang Du , Rong-Biao Ying , Jun Fei , Hang-Yang Jin ,
1 1 2 2 2 2
Jian-Shan Han , Jin-Quan Wang , Xiao-Ling Chen , Chun-Yue Chen , Wen-Ting Liu , Jia-Jun Lu ,
4 2
Jian-Guo Zhang , Xian-Ning Zhang *
1 Department of Urologic Surgery and Department of Pathology, The 117th PLA Hospital, Hangzhou, Zhejiang, China, 2 Department of Biochemistry and Genetics,
Zhejiang University-Adinovo Center for Genetic and Genomic Medicine, National Education Base for Basic Medical Sciences, School of Medicine, Zhejiang University,
Hangzhou, Zhejiang, China, 3 Department of Oncologic Surgery, Tumor Hospital of Taizhou, Wenling, Zhejiang, China, 4 BGI-Shenzhen, Beishan Industrial Zone, Yantian
District, Shenzhen, Guangdong, China
Abstract
Background: Whole exome sequencing provides a labor-saving and direct means of genetic diagnosis of hereditary
disorders in which the pathogenic gene harbors a large cohort of exons. We set out to demonstrate a suitable example of
genetic diagnosis of MEN 2A/FMTC (multiple endocrine neoplasia type 2/familial medullary thyroid carcinoma) using this
approach.
Methodology/Principal Findings: We sequenced the whole exome of six individuals from a large Chinese MEN2A/FMTC
pedigree to identify the variants of the RET (REarranged during Transfection) protooncogene and followed this by
valid
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