Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis
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- 作者：Shujie Zhanga ; b ; 1 ; Haisong Qinb ; 1 ; Weigang Lva ; Shiyu Luob ; Jin Wangb ; Chunyun Fub ; Ruiyu Maa ; Yiping Shenb ; Shaoke Chenb ; chenshaoke123@163.com" class="auth_mail" title="E-mail the corresponding author ; Lingqian Wua ; wulingqian@sklmg.edu.cn" class="auth_mail" title="E-mail the corresponding author
- 关键词：AFAP ; attenuated familial adenomatous polyposis ; APC ; adenomatous polyposis coli ; CFAP ; classical FAP ; CHRPE ; congenital hypertrophy of the retinal pigment epithelium ; ESP ; Exome Sequencing Project ; ExAC ; Exome Aggregation Consortium ; FAP ; familial adenomatous polyposis ; HGMD ; Human Gene Mutation Database
- 刊名：Gene
- 出版年：2016
- 出版时间：15 February 2016
- 年：2016
- 卷：577
- 期：2
- 页码：187-192
- 全文大小：662 K
文摘
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We report five Chinese pedigrees diagnosed with intermediate CFAP.
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We identify two novel mutations in APC gene: c.794_795insG and c.2142_2143insG.
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We broaden the APC mutation spectrum in Chinese patients.
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We compile the mutation spectrum of APC gene in Chinese FAP patients.
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We compare the APC mutation spectrum between Chinese and Western patient populations.