Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma Patients
Background: We aimed to investigate molecular factors potentially related to the progression of gastric adenoma (GA) to gastric cancer (GC) and compare the mutation characteristics between GC and GA. Methods: We conducted custom gene panel sequencing for 135 GC-related genes and estimated the differ...
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MDPI AG
2021-05-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/10/9/2038 |
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| author | Seung Woo Lee Taekyu Lee Hae Jung Sul Ki Cheol Park Joonhong Park |
| author_facet | Seung Woo Lee Taekyu Lee Hae Jung Sul Ki Cheol Park Joonhong Park |
| author_sort | Seung Woo Lee |
| collection | DOAJ |
| description | Background: We aimed to investigate molecular factors potentially related to the progression of gastric adenoma (GA) to gastric cancer (GC) and compare the mutation characteristics between GC and GA. Methods: We conducted custom gene panel sequencing for 135 GC-related genes and estimated the difference in somatic mutation profiles between 20 GC and 20 GA cases. Results: A total of 31 somatic mutations, including 22 missense, 3 nonsense, and 6 frameshift mutations, were detected in 17 samples. We estimated an average of 1.8 mutations per sample (range, 1 to 3 mutations), with 12 in GC and 5 in GA. GC tended to have one or more mutated genes (<i>p</i> = 0.0217), as well as higher allele frequencies of mutated genes (<i>p</i> = 0.0003), compared to GA. Likewise, known driver mutations associated with GC tumorigenesis (<i>TP53</i>, <i>ERBB2</i>, <i>PIK3CA</i>, and <i>RNF43</i>) were identified in half of the GC cases (50%, 10/20; <i>p</i> = 0.0002). Only the mutant burden, regardless of gene type, was retained, with an odds ratio of 1.8392 (95% confidence interval (CI), 1.0071 to 3.3588; <i>p</i> = 0.0474). Conclusion: Our study demonstrates that the accumulation of mutant burden contributes to tumorigenesis progression from GA to GC in Korean patients, regardless of the kind of genes. These findings may elucidate the molecular pathogenesis of gastric carcinogenesis and malignant progression. |
| first_indexed | 2024-03-10T11:34:23Z |
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| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-10T11:34:23Z |
| publishDate | 2021-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-1f5061db4c714835968a127df49e6dd82023-11-21T18:59:41ZengMDPI AGJournal of Clinical Medicine2077-03832021-05-01109203810.3390/jcm10092038Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma PatientsSeung Woo Lee0Taekyu Lee1Hae Jung Sul2Ki Cheol Park3Joonhong Park4Division of Gastroenterology, Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul 06591, KoreaThermo Fisher Scientific Solutions, Seoul 06349, KoreaDepartment of Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, KoreaClinical Research Institute, Daejeon St. Mary’s Hospital, The Catholic University of Korea, Daejeon 34943, KoreaDepartment of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju 54907, KoreaBackground: We aimed to investigate molecular factors potentially related to the progression of gastric adenoma (GA) to gastric cancer (GC) and compare the mutation characteristics between GC and GA. Methods: We conducted custom gene panel sequencing for 135 GC-related genes and estimated the difference in somatic mutation profiles between 20 GC and 20 GA cases. Results: A total of 31 somatic mutations, including 22 missense, 3 nonsense, and 6 frameshift mutations, were detected in 17 samples. We estimated an average of 1.8 mutations per sample (range, 1 to 3 mutations), with 12 in GC and 5 in GA. GC tended to have one or more mutated genes (<i>p</i> = 0.0217), as well as higher allele frequencies of mutated genes (<i>p</i> = 0.0003), compared to GA. Likewise, known driver mutations associated with GC tumorigenesis (<i>TP53</i>, <i>ERBB2</i>, <i>PIK3CA</i>, and <i>RNF43</i>) were identified in half of the GC cases (50%, 10/20; <i>p</i> = 0.0002). Only the mutant burden, regardless of gene type, was retained, with an odds ratio of 1.8392 (95% confidence interval (CI), 1.0071 to 3.3588; <i>p</i> = 0.0474). Conclusion: Our study demonstrates that the accumulation of mutant burden contributes to tumorigenesis progression from GA to GC in Korean patients, regardless of the kind of genes. These findings may elucidate the molecular pathogenesis of gastric carcinogenesis and malignant progression.https://www.mdpi.com/2077-0383/10/9/2038mutation profilesgastric adenomagastric cancermutant burdennext-generation sequencing |
| spellingShingle | Seung Woo Lee Taekyu Lee Hae Jung Sul Ki Cheol Park Joonhong Park Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma Patients Journal of Clinical Medicine mutation profiles gastric adenoma gastric cancer mutant burden next-generation sequencing |
| title | Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma Patients |
| title_full | Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma Patients |
| title_fullStr | Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma Patients |
| title_full_unstemmed | Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma Patients |
| title_short | Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma Patients |
| title_sort | differences in somatic mutation profiles between korean gastric cancer and gastric adenoma patients |
| topic | mutation profiles gastric adenoma gastric cancer mutant burden next-generation sequencing |
| url | https://www.mdpi.com/2077-0383/10/9/2038 |
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