Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Dec;106(6):510-517.
doi: 10.1177/0300891620919171. Epub 2020 May 11.

Targeted next-generation sequencing as a diagnostic tool in gastrointestinal system cancer/polyposis patients

Affiliations

Targeted next-generation sequencing as a diagnostic tool in gastrointestinal system cancer/polyposis patients

Sinem Yalcintepe et al. Tumori. 2020 Dec.

Abstract

Background: Recent advances in next-generation sequencing (NGS) technology have enabled multigene testing and changed the diagnostic approach to hereditary gastrointestinal cancer/polyposis syndromes. The aim of this study was to analyze different cancer predisposition genes in hereditary/sporadic gastrointestinal cancer/polyposis.

Methods: Cancer predisposition genes were analyzed with an Illumina MiSeq NGS system in 80 patients with gastrointestinal cancer/polyposis who were examined between the years 2016 and 2019. Deletion/duplication analysis of MLH1, MSH2, and EPCAM genes was performed by using the multiplex ligation-dependent probe amplification method.

Results: Germline testing of hereditary cancer-related genes was performed in 80 patients with gastrointestinal cancer/polyposis. A total of 30 variants in 30 cases (37.5%) were assessed as pathogenic/likely pathogenic. A total of 19 heterozygous variants were assessed as variants of uncertain clinical significance in 17 cases (21.25%) and 18 (22.5%) novel variations (9 pathogenic/likely pathogenic, 9 variants of uncertain significance) were determined. In 4 (5%) cases, multiplex ligation-dependent probe amplification detected deletions in MLH1, MSH2, and EPCAM genes.

Conclusion: The accumulation of analyses with multigene testing will increase the available data for cancer predisposition genes in hereditary gastrointestinal cancer/polyposis. Educational campaigns for prevention, efficient screening programs, and more personalized care based on the profile of individual patients are necessary.

Keywords: Hereditary colorectal cancer/polyposis; genetic counseling; multigene testing; next-generation sequencing.

PubMed Disclaimer

Similar articles

Cited by

  • Functional analysis of MMR gene VUS from potential Lynch syndrome patients.
    Mahdouani M, Zhuri D, Sezginer Guler H, Hmida D, Sana M, Azaza M, Ben Said M, Masmoudi S, Hmila F, Youssef S, Ben Sghaier R, Brieger A, Zeuzem S, Saad A, Gurkan H, Yalcintepe S, Gribaa M, Plotz G. Mahdouani M, et al. PLoS One. 2024 Jun 6;19(6):e0304141. doi: 10.1371/journal.pone.0304141. eCollection 2024. PLoS One. 2024. PMID: 38843250 Free PMC article.

MeSH terms

Substances

LinkOut - more resources