Targeted next-generation sequencing as a diagnostic tool in gastrointestinal system cancer/polyposis patients.
Adenomatous Polyposis Coli
/ diagnosis
Adult
Aged
Alleles
Biomarkers, Tumor
Female
Gastrointestinal Neoplasms
/ diagnosis
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Testing
/ methods
Genotype
High-Throughput Nucleotide Sequencing
/ methods
Humans
Male
Middle Aged
Reproducibility of Results
Retrospective Studies
Young Adult
Hereditary colorectal cancer/polyposis
genetic counseling
multigene testing
next-generation sequencing
Journal
Tumori
ISSN: 2038-2529
Titre abrégé: Tumori
Pays: United States
ID NLM: 0111356
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
pubmed:
12
5
2020
medline:
22
12
2020
entrez:
12
5
2020
Statut:
ppublish
Résumé
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. 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 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 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.
Sections du résumé
BACKGROUND
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
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
RESULTS
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
CONCLUSION
CONCLUSIONS
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.
Identifiants
pubmed: 32390558
doi: 10.1177/0300891620919171
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM