Colorectal cancer (CRC) is one of the most common human malignancies. Although the method of screening for colorectal cancer has been significantly improved, only 30%-40% of patients are diagnosed at the early time. Colorectal cancer is a result of both environmental and genetic factors and about 35% of colorectal cancers are associated with hereditary susceptibility. The colon cancer related genes are APC, KRAS, TP53 and ABCA1. However, most of the genes in tumors that affect cellular functions including transcription, adhesion and invasion remain unknown. Identification and characterization of new colorectal cancer-related genes will benefit us to understand the mechanism of colorectal cancer and colorectal cancer clinical diagnosis and treatment. High-throughput exome sequencing result have demonstrated that there is relationship between colorectal cancer and gene mutation. In this study, PKHD1 had a CaMP value of 3.5, which was the 7th most common gene in cell adhesion and motility. However, some researchers pointed that the relationship between PKHD1 gene and colorectal cancer may not be statistically significant under the more stringent criteria. Some groups even indicated that the mutation of PKHD1 may play a protective role in the occurrence and development of colorectal cancer. Hence, the role of PKHD1 mutation development and progression of colorectal cancer remains unclear.
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