Spectrum of germline cancer susceptibility gene mutations in Turkish colorectal cancer patients: a single center study
Colorectal cancer
genetics
hereditary cancer
next-generation sequencing
Journal
Turkish journal of medical sciences
ISSN: 1303-6165
Titre abrégé: Turk J Med Sci
Pays: Turkey
ID NLM: 9441758
Informations de publication
Date de publication:
23 06 2020
23 06 2020
Historique:
received:
07
02
2020
accepted:
07
04
2020
entrez:
15
4
2020
pubmed:
15
4
2020
medline:
27
10
2021
Statut:
epublish
Résumé
Quarter of colorectal cancer patients have a family history and 6% of these comprise hereditary cancer syndromes. For developing national health strategies for genetic screening, it is crucial to determine the spectrum of damaging alterations in causative genes and to describe frequent founder mutations. One hundred and thirty six unrelated colorectal cancer cases were investigated. Qiagen large hereditary cancer panel and Hereditary Cancer Solution v1.1 panel were used for sequencing. The sequencing process was performed on the Illumina MiSeq system. The data analyses were performed on QIAGEN Clinical Insight (QCI™) Analyze software and Sophia DDM software. Of 136 patients, 11 (8%) were found to carry a pathogenic and 2 (1.4%) were found to carry a likely pathogenic mutation. Altogether, 12 different pathogenic and likely pathogenic mutations were detected. This study is the first study in Turkish colorectal cancer patients using next-generation sequencing. Point mutation screening in the families of patients with mutations will be able to identify individuals at risk in a cost-effective manner.
Sections du résumé
Background/aim
Quarter of colorectal cancer patients have a family history and 6% of these comprise hereditary cancer syndromes. For developing national health strategies for genetic screening, it is crucial to determine the spectrum of damaging alterations in causative genes and to describe frequent founder mutations.
Materials and methods
One hundred and thirty six unrelated colorectal cancer cases were investigated. Qiagen large hereditary cancer panel and Hereditary Cancer Solution v1.1 panel were used for sequencing. The sequencing process was performed on the Illumina MiSeq system. The data analyses were performed on QIAGEN Clinical Insight (QCI™) Analyze software and Sophia DDM software.
Results
Of 136 patients, 11 (8%) were found to carry a pathogenic and 2 (1.4%) were found to carry a likely pathogenic mutation. Altogether, 12 different pathogenic and likely pathogenic mutations were detected.
Conclusion
This study is the first study in Turkish colorectal cancer patients using next-generation sequencing. Point mutation screening in the families of patients with mutations will be able to identify individuals at risk in a cost-effective manner.
Identifiants
pubmed: 32283892
doi: 10.3906/sag-2002-46
pmc: PMC7379412
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1015-1021Informations de copyright
This work is licensed under a Creative Commons Attribution 4.0 International License.
Déclaration de conflit d'intérêts
The authors declare that there is no conflict of interest.
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