title: A novel APC mosaicism in a patient with familial adenomatous polyposis.
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.
authors.affiliation: First Department of Medicine, Hamamatsu University School of Medicine , Shizuoka, Japan.
authors.forename: Moriya
authors.initials: M
authors.lastname: Iwaizumi
authors.affiliation: Department of Tumor Pathology, Hamamatsu University School of Medicine , Shizuoka, Japan.
authors.forename: Hong
authors.initials: H
authors.lastname: Tao
authors.affiliation: Division of Clinical Genome Research, Advanced Clinical Research Center, Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Yamaguchi
authors.affiliation: Department of Tumor Pathology, Hamamatsu University School of Medicine , Shizuoka, Japan.
authors.forename: Hidetaka
authors.initials: H
authors.lastname: Yamada
authors.affiliation: Department of Tumor Pathology, Hamamatsu University School of Medicine , Shizuoka, Japan.
authors.forename: Kazuya
authors.initials: K
authors.lastname: Shinmura
authors.affiliation: Department of Tumor Pathology, Hamamatsu University School of Medicine , Shizuoka, Japan.
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Kahyo
authors.affiliation: First Department of Medicine, Hamamatsu University School of Medicine , Shizuoka, Japan.
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Yamanaka
authors.affiliation: Second Department of Medicine, Hamamatsu University School of Medicine , Shizuoka, Japan.
authors.forename: Kiyotaka
authors.initials: K
authors.lastname: Kurachi
authors.affiliation: First Department of Medicine, Hamamatsu University School of Medicine , Shizuoka, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Sugimoto
authors.affiliation: Division of Clinical Genome Research, Advanced Clinical Research Center, Institute of Medical Science, The University of Tokyo , Tokyo, Japan.
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Furukawa
authors.affiliation: Department of Tumor Pathology, Hamamatsu University School of Medicine , Shizuoka, Japan.
authors.forename: Haruhiko
authors.initials: H
authors.lastname: Sugimura