RNF43 is associated with genomic features and clinical outcome in BRAF mutant colorectal cancer
BackgroundColorectal cancer (CRC) patients with BRAF mutation have very poor prognosis. It is urgent to search for prognostic factors of BRAF mutant CRC. RNF43 is a ENF ubiquitin ligase of Wnt signaling. Mutation of RNF43 has been observed frequently in various types of human cancers. However, few s...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-06-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2023.1119587/full |
| _version_ | 1797799428214489088 |
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| author | Peipei Shang Jiongjiong Lu Feihong Song Yijun Zhao Weipeng Hong Yuange He Weidong Shen Li Geng |
| author_facet | Peipei Shang Jiongjiong Lu Feihong Song Yijun Zhao Weipeng Hong Yuange He Weidong Shen Li Geng |
| author_sort | Peipei Shang |
| collection | DOAJ |
| description | BackgroundColorectal cancer (CRC) patients with BRAF mutation have very poor prognosis. It is urgent to search for prognostic factors of BRAF mutant CRC. RNF43 is a ENF ubiquitin ligase of Wnt signaling. Mutation of RNF43 has been observed frequently in various types of human cancers. However, few studies have evaluated the role of RNF43 in CRC. The present study aimed to explore the impact of RNF43 mutations on molecular characteristics and prognosis in BRAF mutant CRC.MethodsSamples of 261 CRC patients with BRAF mutation were retrospectively analyzed. Tumor tissue and matched peripheral blood samples were collected and subjected to targeted sequencing with a panel of 1021 cancer-related genes. The association of molecular characteristics and survival in patients were then analyzed. 358 CRC patients with BRAF mutation from the cBioPortal dataset were used for further confirmation.ResultsThis study was inspired by a CRC patient with BRAF V600E and RNF43 co-mutation, who achieved a best remission of 70% and a progression free survival (PFS) of 13 months. Genomic analysis indicated that RNF43 mutation affected the genomic characteristics of patients with BRAF mutation, including microsatellite instability (MSI), tumor mutation burden (TMB) and the proportion of common gene mutations. Survival analysis showed that RNF43 mutation was a predictive biomarker for better PFS and OS in BRAF mutant CRC.ConclusionCollectively, we identified that RNF43 mutations were correlated with favorable genomic features, resulting in a better clinical outcome for BRAF mutant CRC patients. |
| first_indexed | 2024-03-13T04:18:45Z |
| format | Article |
| id | doaj.art-6419810e939b41319161e20a526ba084 |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-03-13T04:18:45Z |
| publishDate | 2023-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-6419810e939b41319161e20a526ba0842023-06-20T15:21:19ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2023-06-011310.3389/fonc.2023.11195871119587RNF43 is associated with genomic features and clinical outcome in BRAF mutant colorectal cancerPeipei Shang0Jiongjiong Lu1Feihong Song2Yijun Zhao3Weipeng Hong4Yuange He5Weidong Shen6Li Geng7Oncology Department, Eastern Hepatobiliary Surgical Hospital, Shanghai, ChinaDepartment of Special Treatment, Eastern Hepatobiliary Surgical Hospital, Shanghai, ChinaDepartment of Special Treatment, Eastern Hepatobiliary Surgical Hospital, Shanghai, ChinaDepartment of Special Treatment, Eastern Hepatobiliary Surgical Hospital, Shanghai, ChinaDepartment of Medical Center, Geneplus-Beijing Ltd., Beijing, ChinaDepartment of Medical Center, Geneplus-Beijing Ltd., Beijing, ChinaDepartment of Medical Center, Geneplus-Beijing Ltd., Beijing, ChinaDepartment of Special Treatment, Eastern Hepatobiliary Surgical Hospital, Shanghai, ChinaBackgroundColorectal cancer (CRC) patients with BRAF mutation have very poor prognosis. It is urgent to search for prognostic factors of BRAF mutant CRC. RNF43 is a ENF ubiquitin ligase of Wnt signaling. Mutation of RNF43 has been observed frequently in various types of human cancers. However, few studies have evaluated the role of RNF43 in CRC. The present study aimed to explore the impact of RNF43 mutations on molecular characteristics and prognosis in BRAF mutant CRC.MethodsSamples of 261 CRC patients with BRAF mutation were retrospectively analyzed. Tumor tissue and matched peripheral blood samples were collected and subjected to targeted sequencing with a panel of 1021 cancer-related genes. The association of molecular characteristics and survival in patients were then analyzed. 358 CRC patients with BRAF mutation from the cBioPortal dataset were used for further confirmation.ResultsThis study was inspired by a CRC patient with BRAF V600E and RNF43 co-mutation, who achieved a best remission of 70% and a progression free survival (PFS) of 13 months. Genomic analysis indicated that RNF43 mutation affected the genomic characteristics of patients with BRAF mutation, including microsatellite instability (MSI), tumor mutation burden (TMB) and the proportion of common gene mutations. Survival analysis showed that RNF43 mutation was a predictive biomarker for better PFS and OS in BRAF mutant CRC.ConclusionCollectively, we identified that RNF43 mutations were correlated with favorable genomic features, resulting in a better clinical outcome for BRAF mutant CRC patients.https://www.frontiersin.org/articles/10.3389/fonc.2023.1119587/fullcolorectal cancerRNF43BRAFgenomic featuresclinical outcome |
| spellingShingle | Peipei Shang Jiongjiong Lu Feihong Song Yijun Zhao Weipeng Hong Yuange He Weidong Shen Li Geng RNF43 is associated with genomic features and clinical outcome in BRAF mutant colorectal cancer Frontiers in Oncology colorectal cancer RNF43 BRAF genomic features clinical outcome |
| title | RNF43 is associated with genomic features and clinical outcome in BRAF mutant colorectal cancer |
| title_full | RNF43 is associated with genomic features and clinical outcome in BRAF mutant colorectal cancer |
| title_fullStr | RNF43 is associated with genomic features and clinical outcome in BRAF mutant colorectal cancer |
| title_full_unstemmed | RNF43 is associated with genomic features and clinical outcome in BRAF mutant colorectal cancer |
| title_short | RNF43 is associated with genomic features and clinical outcome in BRAF mutant colorectal cancer |
| title_sort | rnf43 is associated with genomic features and clinical outcome in braf mutant colorectal cancer |
| topic | colorectal cancer RNF43 BRAF genomic features clinical outcome |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2023.1119587/full |
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