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

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%)

SUBMITTER: Erdem HB 

PROVIDER: S-EPMC7379412 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature