What is it about?

Genetic factors play an important role in colorectal cancer risk, yet the prevalence and spectrum of germline cancer susceptibility gene mutations among Chinese CRC patients is largely undetermined. In our study, gene mutations in Chinese CRC patients were detected by high-throughput targeted sequencing, aiming to explore the frequency and spectrum of cancer susceptibility gene germline mutations among Chinese CRC patients and identify the likely pathogenic mutations which were highly related to colorectal cancer.

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Why is it important?

Using a multigene panel testing, we determined the prevalence and spectrum of germline mutations in 74 genes associated with various hereditary cancer syndromes in 618 unselected CRC patients. Meanwhile we found genes currently unrelated to colorectal cancer and excluded from routine molecular diagnostic screens may be predisposed to CRC and 33 novel variants were discovered and evaluated as pathogenic mutations by our study.Finding new genetic factors related to colorectal cancer can not only help to clarify the pathogenesis of colorectal cancer, but also help to guide the clinical development of prevention and treatment strategies, provide a systematic monitoring and management of hereditary colorectal cancer.


This study provides empirical data for clinical decision-making of single gene testing or targeted next-generation sequencing. However, the question of how to improve the sensitivity and specificity of germline genetic testing still remains. It is also critical to identify which gene variants are associated with colorectal cancer risk, the magnitude of the risk, other related tumors, clinical phenotypes, and the feasibility of clinical transformation. Only through extensive testing, accumulation of large international datasets and further studies to determine the functions of different mutations will sufficient information be generated to provide overwhelming evidence to determine whether a gene is associated with CRC susceptibility and can be translated into clinical applications.

Rui Gong

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This page is a summary of: Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients, Cancer Management and Research, April 2019, Dove Medical Press, DOI: 10.2147/cmar.s193985.
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