A novel APC mosaicism in a patient with familial adenomatous polyposis.
A novel APC mosaicism in a patient with familial adenomatous polyposis.
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DOI：
10.1038/hgv.2015.57
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发表时间：
2015
影响因子：
1.5
通讯作者：
Sugimura H
中科院分区：
文献类型：
--
作者：
Iwaizumi M;Tao H;Yamaguchi K;Yamada H;Shinmura K;Kahyo T;Yamanaka Y;Kurachi K;Sugimoto K;Furukawa Y;Sugimura H
使用下一代测序（NGS）分析患有零星家族性腺瘤性息肉病的患者，其中未通过Sanger测序发现APC突变，我们在剪接的供体部位（C.834+2 T> C）中鉴定了一种新型的APC镶嵌物（C.834+2 T> C）他的白细胞，正常的结肠粘膜和腺瘤。使用NGS检测APC镶嵌物对于提供适当的遗传咨询和对AT风险家庭成员的监视以及概率可能很有用。
Using next-generation sequencing (NGS) to analyze a patient with sporadic familial adenomatous polyposis in whom no APC mutations were found by Sanger sequencing, we identified a novel APC mosaicism at a spliced donor site (c.834+2 T>C) in his leukocytes, normal colonic mucosa and adenoma. The detection of APC mosaicism using NGS can be useful in providing appropriate genetic counseling and surveillance of at risk family members as well as the proband.