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Gene Mutation Profiling in Chinese Colorectal Cancers Patients and Its Association with Clinicopathological Characteristics and Prognosis
44 Pages Posted: 18 Jun 2019
More...Abstract
Background: Gene mutations may play an important role in the development, response to treatment and prognosis of colorectal cancer (CRC). This retrospective study aims to investigate the mutation profiling of Chinese patients with CRC, and its correlation with clinicopathological features and prognosis.
Methods: This study included 1190 Chinese CRC patients who were diagnosed between May 1998 and December 2018 and received clinical genetic testing. The OncoCarta Panel was used to test a total of 238 possible mutations in 19 common oncogenes.
Results: 582 (48.9%) cases were detected with gene mutations. Of the 582 cases, there were 111 cases (19.7%) with 2 concurrent mutations, and 6 cases (1.0%) with 3 concurrent mutations. KRAS was the most common gene that occurred mutation in all cases (429, 36.1%), followed by PIK3CA (121, 10.2%), NRAS (47, 3.9%), BRAF (35, 2.9%), HRAS (11, 0.9%) and EGFR (11, 0.9%). AKT1, KIT, FGFR1, FGFR3, FLT3, CDK, ERBB2, ABL1, MET, RET and PDGFRA mutations were also detected in several cases. When it came to the prognosis, we found that KRAS/NRAS/PIK3CA/BRAF mutation was not associated with prognosis. But BRAF mutation was associated with poor prognosis in patients who accepted anti-EGFR therapy.
Conclusions: The molecular testing offered the clinical data of Chinese CRC patients, and supplemented the mutation profile in both the common mutated genes (like KRAS, BRAF, PIK3CA) and the less frequent ones. The information of these mutated genes may help to find out the correlation between mutated genes and the development or prognosis of CRC.
Funding Statement: This work was supported by the National Natural Science Foundation of China [grant number 81602426 and 81602066]; the Natural Science Foundation of Guangdong Province, China [grant number 2016A030310198]; and the Medical Science and Technology Research Fund Project of Guangdong Province, China [grant number A2015003]; the Fundamental Research Funds for the Central Universities (Grant number. 16ykpy25); the third outstanding young talents training plan and Medical Scientist program of Sun Yat-sen University cancer center.
Declaration of Interests: The authors state: "None declared for any of the authors."
Ethics Approval Statement: This study was performed in accordance with the Declaration of Helsinki protocols and was approved by the local Ethics Committee. All subjects gave written informed consent at their first visit.
Keywords: Colorectal cancer; Mutation Profiling; Prognosis
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