Ann Lab Med.  2021 Jan;41(1):123-125. 10.3343/alm.2021.41.1.123.

A Novel Splice Variant (c.438T>A) of APC, Suspected by Family History and Confirmed by RNA Sequencing

Affiliations
  • 1Departments of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea
  • 2Departments of Gastroenterology, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea
  • 3Departments of Oncology, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea
  • 4Departments of Surgery, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea


Reference

1. Powell SM, Petersen GM, Krush AJ, Booker S, Jen J, Giardiello FM, et al. Molecular diagnosis of familial adenomatous polyposis. N Engl J Med. 1993; 329:1982–7.
Article
2. Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, et al. Identification of a variety of mutations in cancer predisposition genes in patients with suspected Lynch syndrome. Gastroenterology. 2015; 149:604–13.e20.
Article
3. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17:405–24.
Article
4. Nielsen M, Hes FJ, Nagengast FM, Weiss MM, Mathus-Vliegen EM, Morreau H, et al. Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clin Genet. 2007; 71:427–33.
5. Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, et al. Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. Hum Mutat. 2004; 24:370–80.
6. Anna A, Monika G. Splicing mutations in human genetic disorders: examples, detection, and confirmation. J Appl Genet. 2018; 59:253–68.
Article
7. Vears DF, Niemiec E, Howard HC, Borry P. Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms. Eur J Hum Genet. 2018; 26:1743–51.
Article
Full Text Links
  • ALM
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2025 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr