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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.

SUBMITTER: Iwaizumi M

PROVIDER: S-EPMC4785584 | biostudies-other | 2015

REPOSITORIES: biostudies-other

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A novel APC mosaicism in a patient with familial adenomatous polyposis.

Iwaizumi Moriya M Tao Hong H Yamaguchi Kiyoshi K Yamada Hidetaka H Shinmura Kazuya K Kahyo Tomoaki T Yamanaka Yoshiyuki Y Kurachi Kiyotaka K Sugimoto Ken K Furukawa Yoichi Y Sugimura Haruhiko H

Human genome variation 20151210

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. ...[more]

PMID: 27081559

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