Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation

被引：5
|
作者：
Tsuneo Ikenoue
Kiyoshi Yamaguchi
Mitsuhiro Komura
Seiya Imoto
Rui Yamaguchi
Eigo Shimizu
Shinichi Kasuya
Tetsuo Shibuya
Seira Hatakeyama
Satoru Miyano
Yoichi Furukawa
机构：
[1] Advanced Clinical Research Center,Division of Clinical Genome Research
[2] The Institute of Medical Science,undefined
[3] The University of Tokyo,undefined
[4] Laboratory of DNA Information Analysis,undefined
[5] Human Genome Center,undefined
[6] The Institute of Medical Science,undefined
[7] The University of Tokyo,undefined
[8] Laboratory of Sequence Analysis,undefined
[9] Human Genome Center,undefined
[10] The Institute of Medical Science,undefined
[11] The University of Tokyo,undefined
来源：
Human Genome Variation | / 2卷 / 1期
关键词：
D O I：
10.1038/hgv.2015.11
中图分类号：
学科分类号：
摘要：
We present here a case of attenuated familial adenomatous polyposis (AFAP) with a family history of desmoids and thyroid tumors. This patient had no colonic polyps but did have multiple desmoids. Genetic analysis identified a 4-bp deletion in codon 2644 (c.7932_7935delTTAT: p.Tyr2645LysfsX14) of the adenomatous polyposis coli (APC) gene. In cases with limited numbers of colonic polyps and desmoids, AFAP may be caused by a mutation in the 3′ region of APC.
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