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Background  Inherited susceptibility accounts for nearly one‐third of colorectal cancer (CRC) predispositions and has an 80%‐100% lifetime risk of this disease. However, there are few data about germline mutations of hereditary CRC‐related genes in Chinese patients with CRC. This study aimed to assess the prevalence of gene mutations related to cancer susceptibility among Chinese patients with CRC, differences between Chinese and Western patients, and the phenotype‐genotype correlation.    Methods  We retrospectively collected tumor samples from 526 patients with CRC under 70 years old who underwent hereditary CRC genetic testing. A series of bioinformatic analyses, as well as statistical comparisons, were performed.    Results  We found that 77 patients (14.6%) harbored functional variants of the 12 genes. The mutation frequencies of the top 5 mutated genes were 6.5% for MutL homolog 1 ( MLH1 ), 5.1% for MutS homolog 2 ( MSH2 ), 1.0% for  MSH6 , 0.8% for  PMS1  homolog 2 ( PMS2 ), and 0.8% for APC regulator of the WNT signaling pathway ( APC ). Our data showed much higher rates of mutations of  MSH6  and  PMS2  genes among all mismatch repair (MMR) genes as compared with those in Western populations. Mutations in  MLH1 ,  MSH2 , and  MSH6  were found to be mutually exclusive. Patients with  MLH1  or  MSH2  mutations had higher frequencies of personal history of cancer ( MLH1 : 20.6% vs. 8.7%;  MSH2 : 25.9% vs. 8.6%) and family history of cancer than those without these mutations ( MLH1 : 73.5% vs. 48.4%;  MSH2 : 70.4% vs. 48.9%), and the lesions were more prone to occur on the right side of the colon than on the left side ( MLH1 : 73.5% vs. 29.3%;  MSH2 : 56.0% vs. 31.0%). The proportion of stage I/II disease was higher in patients with  MLH1  mutations than in those without  MLH1  mutations (70.6% vs. 50.7%), and the rate of polyps was higher in patients with  APC  mutations than in those with wild‐type  APC  (75.0% vs. 17.4%).    Conclusion  These results provide a full‐scale landscape of hereditary susceptibility over 12 related genes in CRC patients and suggest that a comprehensive multi‐gene panel testing for hereditary CRC predisposition could be a helpful analysis in clinical practice.

Germline mutational profile of Chinese patients under 70 years old with colorectal cancer