Spectrum of germline cancer susceptibility gene mutations in Turkish colorectal cancer patients: a single center study

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 QCITM 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.

Keywords:

Colorectal cancer, genetics hereditary cancer, next-generation sequencing,

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