ArticleTurkish journal of medical sciences2020
Spectrum of germline cancer susceptibility gene mutations in Turkish colorectal cancer patients: a single center study
Article in Turkish journal of medical sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.Human genomics · 2026Article
- Clinicopathological and genotypic characteristics of colorectal cancer patients carrying a germline MUTYH mutation.Revista da Associacao Medica Brasileira (1992) · 2026Article
- Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.Acta neuropathologica communications · 2023Article
- Evaluation and limitations of different approaches among COVID-19 fatal cases using whole-exome sequencing data.BMC genomics · 2023Article
- Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients.Medeniyet medical journal · 2022Article
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Authors and funding
2 authors.
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Abstract
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.
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