Recurrence-associated gene signature in patients with stage I non-small-cell lung cancer
Abstract Recurrent gene mutations and fusions in cancer patients are likely to be associated with cancer progression or recurrence by Vogelstein et al. (Science (80-) 340, 1546–1558 (2013)). In this study, we investigated gene mutations and fusions that recurrently occurred in early-stage cancer pat...
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2021
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oai:doaj.org-article:5ab5642c5e294704bbfa5c03faf4b75f2021-12-02T18:51:08ZRecurrence-associated gene signature in patients with stage I non-small-cell lung cancer10.1038/s41598-021-99197-w2045-2322https://doaj.org/article/5ab5642c5e294704bbfa5c03faf4b75f2021-10-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-99197-whttps://doaj.org/toc/2045-2322Abstract Recurrent gene mutations and fusions in cancer patients are likely to be associated with cancer progression or recurrence by Vogelstein et al. (Science (80-) 340, 1546–1558 (2013)). In this study, we investigated gene mutations and fusions that recurrently occurred in early-stage cancer patients with stage I non-small-cell cancer (NSCLC). Targeted exome sequencing was performed to profile the variants and confirmed their fidelity at the gene and pathway levels through comparison with data for stage I lung cancer patients, which was obtained from The Cancer Genome Atlas (TCGA). Next, we identified prognostic gene mutations (ATR, ERBB3, KDR, and MUC6), fusions (GOPC-ROS1 and NTRK1-SH2D2A), and VEGF signaling pathway associated with cancer recurrence. To infer the functional implication of the recurrent variants in early-stage cancers, the extent of their selection pattern was investigated, and they were shown to be under positive selection, implying a selective advantage for cancer progression. Specifically, high selection scores were observed in the variants with significantly high risks for recurrence. Taken together, the results of this study enabled us to identify recurrent gene mutations and fusions in a stage I NSCLC cohort and to demonstrate positive selection, which had implications regarding cancer recurrence.Su Han ChoShinkyo YoonDae Ho LeeSang-We KimKwoneel KimNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-10 (2021) |
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Medicine R Science Q Su Han Cho Shinkyo Yoon Dae Ho Lee Sang-We Kim Kwoneel Kim Recurrence-associated gene signature in patients with stage I non-small-cell lung cancer |
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Abstract Recurrent gene mutations and fusions in cancer patients are likely to be associated with cancer progression or recurrence by Vogelstein et al. (Science (80-) 340, 1546–1558 (2013)). In this study, we investigated gene mutations and fusions that recurrently occurred in early-stage cancer patients with stage I non-small-cell cancer (NSCLC). Targeted exome sequencing was performed to profile the variants and confirmed their fidelity at the gene and pathway levels through comparison with data for stage I lung cancer patients, which was obtained from The Cancer Genome Atlas (TCGA). Next, we identified prognostic gene mutations (ATR, ERBB3, KDR, and MUC6), fusions (GOPC-ROS1 and NTRK1-SH2D2A), and VEGF signaling pathway associated with cancer recurrence. To infer the functional implication of the recurrent variants in early-stage cancers, the extent of their selection pattern was investigated, and they were shown to be under positive selection, implying a selective advantage for cancer progression. Specifically, high selection scores were observed in the variants with significantly high risks for recurrence. Taken together, the results of this study enabled us to identify recurrent gene mutations and fusions in a stage I NSCLC cohort and to demonstrate positive selection, which had implications regarding cancer recurrence. |
format |
article |
author |
Su Han Cho Shinkyo Yoon Dae Ho Lee Sang-We Kim Kwoneel Kim |
author_facet |
Su Han Cho Shinkyo Yoon Dae Ho Lee Sang-We Kim Kwoneel Kim |
author_sort |
Su Han Cho |
title |
Recurrence-associated gene signature in patients with stage I non-small-cell lung cancer |
title_short |
Recurrence-associated gene signature in patients with stage I non-small-cell lung cancer |
title_full |
Recurrence-associated gene signature in patients with stage I non-small-cell lung cancer |
title_fullStr |
Recurrence-associated gene signature in patients with stage I non-small-cell lung cancer |
title_full_unstemmed |
Recurrence-associated gene signature in patients with stage I non-small-cell lung cancer |
title_sort |
recurrence-associated gene signature in patients with stage i non-small-cell lung cancer |
publisher |
Nature Portfolio |
publishDate |
2021 |
url |
https://doaj.org/article/5ab5642c5e294704bbfa5c03faf4b75f |
work_keys_str_mv |
AT suhancho recurrenceassociatedgenesignatureinpatientswithstageinonsmallcelllungcancer AT shinkyoyoon recurrenceassociatedgenesignatureinpatientswithstageinonsmallcelllungcancer AT daeholee recurrenceassociatedgenesignatureinpatientswithstageinonsmallcelllungcancer AT sangwekim recurrenceassociatedgenesignatureinpatientswithstageinonsmallcelllungcancer AT kwoneelkim recurrenceassociatedgenesignatureinpatientswithstageinonsmallcelllungcancer |
_version_ |
1718377447811973120 |