A novel APC mosaicism in a patient with familial adenomatous polyposis

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 de...

Descripción completa

Detalles Bibliográficos
Autores principales: Iwaizumi, Moriya, Tao, Hong, Yamaguchi, Kiyoshi, Yamada, Hidetaka, Shinmura, Kazuya, Kahyo, Tomoaki, Yamanaka, Yoshiyuki, Kurachi, Kiyotaka, Sugimoto, Ken, Furukawa, Yoichi, Sugimura, Haruhiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785584/
https://www.ncbi.nlm.nih.gov/pubmed/27081559
http://dx.doi.org/10.1038/hgv.2015.57
_version_ 1782420427737399296
author Iwaizumi, Moriya
Tao, Hong
Yamaguchi, Kiyoshi
Yamada, Hidetaka
Shinmura, Kazuya
Kahyo, Tomoaki
Yamanaka, Yoshiyuki
Kurachi, Kiyotaka
Sugimoto, Ken
Furukawa, Yoichi
Sugimura, Haruhiko
author_facet Iwaizumi, Moriya
Tao, Hong
Yamaguchi, Kiyoshi
Yamada, Hidetaka
Shinmura, Kazuya
Kahyo, Tomoaki
Yamanaka, Yoshiyuki
Kurachi, Kiyotaka
Sugimoto, Ken
Furukawa, Yoichi
Sugimura, Haruhiko
author_sort Iwaizumi, Moriya
collection PubMed
description 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.
format Online
Article
Text
id pubmed-4785584
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher Nature Publishing Group
record_format MEDLINE/PubMed
spelling pubmed-47855842016-04-14 A novel APC mosaicism in a patient with familial adenomatous polyposis Iwaizumi, Moriya Tao, Hong Yamaguchi, Kiyoshi Yamada, Hidetaka Shinmura, Kazuya Kahyo, Tomoaki Yamanaka, Yoshiyuki Kurachi, Kiyotaka Sugimoto, Ken Furukawa, Yoichi Sugimura, Haruhiko Hum Genome Var Data Report 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. Nature Publishing Group 2015-12-10 /pmc/articles/PMC4785584/ /pubmed/27081559 http://dx.doi.org/10.1038/hgv.2015.57 Text en Copyright © 2015 Official journal of the Japan Society of Human Genetics http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Data Report
Iwaizumi, Moriya
Tao, Hong
Yamaguchi, Kiyoshi
Yamada, Hidetaka
Shinmura, Kazuya
Kahyo, Tomoaki
Yamanaka, Yoshiyuki
Kurachi, Kiyotaka
Sugimoto, Ken
Furukawa, Yoichi
Sugimura, Haruhiko
A novel APC mosaicism in a patient with familial adenomatous polyposis
title A novel APC mosaicism in a patient with familial adenomatous polyposis
title_full A novel APC mosaicism in a patient with familial adenomatous polyposis
title_fullStr A novel APC mosaicism in a patient with familial adenomatous polyposis
title_full_unstemmed A novel APC mosaicism in a patient with familial adenomatous polyposis
title_short A novel APC mosaicism in a patient with familial adenomatous polyposis
title_sort novel apc mosaicism in a patient with familial adenomatous polyposis
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785584/
https://www.ncbi.nlm.nih.gov/pubmed/27081559
http://dx.doi.org/10.1038/hgv.2015.57
work_keys_str_mv AT iwaizumimoriya anovelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT taohong anovelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT yamaguchikiyoshi anovelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT yamadahidetaka anovelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT shinmurakazuya anovelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT kahyotomoaki anovelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT yamanakayoshiyuki anovelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT kurachikiyotaka anovelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT sugimotoken anovelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT furukawayoichi anovelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT sugimuraharuhiko anovelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT iwaizumimoriya novelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT taohong novelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT yamaguchikiyoshi novelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT yamadahidetaka novelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT shinmurakazuya novelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT kahyotomoaki novelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT yamanakayoshiyuki novelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT kurachikiyotaka novelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT sugimotoken novelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT furukawayoichi novelapcmosaicisminapatientwithfamilialadenomatouspolyposis
AT sugimuraharuhiko novelapcmosaicisminapatientwithfamilialadenomatouspolyposis

Ejemplares similares