A novel APC mosaicism in a patient with familial adenomatous polyposis

Moriya Iwaizumi; Hong Tao; Kiyoshi Yamaguchi; Hidetaka Yamada; Kazuya Shinmura; Tomoaki Kahyo; Yoshiyuki Yamanaka; Kiyotaka Kurachi; Ken Sugimoto; Yoichi Furukawa; Haruhiko Sugimura

doi:10.1038/hgv.2015.57

A novel APC mosaicism in a patient with familial adenomatous polyposis

Hum Genome Var. 2015 Dec 10:2:15057. doi: 10.1038/hgv.2015.57. eCollection 2015.

Affiliations

¹ First Department of Medicine, Hamamatsu University School of Medicine , Shizuoka, Japan.
² Department of Tumor Pathology, Hamamatsu University School of Medicine , Shizuoka, Japan.
³ Division of Clinical Genome Research, Advanced Clinical Research Center, Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
⁴ Second Department of Medicine, Hamamatsu University School of Medicine , Shizuoka, Japan.

Abstract

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.