• Turk J Med Sci · Jun 2020

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

    • Haktan Bağiş Erdem and Taha Bahsi.
    • Department of Medical Genetics, University of Health Sciences, Dr. Abdurrahman Yurtaslan AnkaraOncology Training and Research Hospital, Ankara, Turkey
    • Turk J Med Sci. 2020 Jun 23; 50 (4): 1015-1021.

    Background/AimQuarter 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 MethodsOne 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.ResultsOf 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.ConclusionThis 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.This work is licensed under a Creative Commons Attribution 4.0 International License.

      Pubmed     Free full text   Copy Citation     Plaintext  

      Add institutional full text...

    Notes

     
    Knowledge, pearl, summary or comment to share?
    300 characters remaining
    help        
    You can also include formatting, links, images and footnotes in your notes
    • Simple formatting can be added to notes, such as *italics*, _underline_ or **bold**.
    • Superscript can be denoted by <sup>text</sup> and subscript <sub>text</sub>.
    • Numbered or bulleted lists can be created using either numbered lines 1. 2. 3., hyphens - or asterisks *.
    • Links can be included with: [my link to pubmed](http://pubmed.com)
    • Images can be included with: ![alt text](https://bestmedicaljournal.com/study_graph.jpg "Image Title Text")
    • For footnotes use [^1](This is a footnote.) inline.
    • Or use an inline reference [^1] to refer to a longer footnote elseweher in the document [^1]: This is a long footnote..

    hide…

What will the 'Medical Journal of You' look like?

Start your free 21 day trial now.

We guarantee your privacy. Your email address will not be shared.