Enhancing the landscape of colorectal cancer using targeted deep sequencing

Abstract Targeted next-generation sequencing (NGS) technology detects specific mutations that can provide treatment opportunities for colorectal cancer (CRC) patients. We included 145 CRC patients who underwent surgery. We analyzed the mutation frequencies of common actionable genes and their associ...

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Autores principales:	Chul Seung Lee, In Hye Song, Ahwon Lee, Jun Kang, Yoon Suk Lee, In Kyu Lee, Young Soo Song, Sung Hak Lee
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/bc1682915852470cb11b41551d5a7ba5
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spelling	oai:doaj.org-article:bc1682915852470cb11b41551d5a7ba52021-12-02T15:51:13ZEnhancing the landscape of colorectal cancer using targeted deep sequencing10.1038/s41598-021-87486-32045-2322https://doaj.org/article/bc1682915852470cb11b41551d5a7ba52021-04-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-87486-3https://doaj.org/toc/2045-2322Abstract Targeted next-generation sequencing (NGS) technology detects specific mutations that can provide treatment opportunities for colorectal cancer (CRC) patients. We included 145 CRC patients who underwent surgery. We analyzed the mutation frequencies of common actionable genes and their association with clinicopathological characteristics and oncologic outcomes using targeted NGS. Approximately 97.9% (142) of patients showed somatic mutations. Frequent mutations were observed in TP53 (70%), APC (60%), and KRAS (49%). TP53 mutations were significantly linked to higher overall stage (p = 0.038) and lower disease-free survival (DFS) (p = 0.039). ATM mutation was significantly associated with higher tumor stage (p = 0.012) and shorter overall survival (OS) (p = 0.041). Stage 3 and 4 patients with ATM mutations (p = 0.023) had shorter OS, and FBXW7 mutation was significantly associated with shorter DFS (p = 0.002). However, the OS of patients with or without TP53, RAS, APC, PIK3CA, and SMAD4 mutations did not differ significantly (p = 0.59, 0.72, 0.059, 0.25, and 0.12, respectively). Similarly, the DFS between patients with RAS, APC, PIK3CA, and SMAD4 mutations and those with wild-type were not statistically different (p = 0.3, 0.79, 0.13, and 0.59, respectively). In multivariate Cox regression analysis, ATM mutation was an independent biomarker for poor prognosis of OS (p = 0.043). A comprehensive analysis of the molecular markers for CRC can provide insights into the mechanisms underlying disease progression and help optimize a personalized therapy.Chul Seung LeeIn Hye SongAhwon LeeJun KangYoon Suk LeeIn Kyu LeeYoung Soo SongSung Hak LeeNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-26 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Chul Seung Lee In Hye Song Ahwon Lee Jun Kang Yoon Suk Lee In Kyu Lee Young Soo Song Sung Hak Lee Enhancing the landscape of colorectal cancer using targeted deep sequencing
description	Abstract Targeted next-generation sequencing (NGS) technology detects specific mutations that can provide treatment opportunities for colorectal cancer (CRC) patients. We included 145 CRC patients who underwent surgery. We analyzed the mutation frequencies of common actionable genes and their association with clinicopathological characteristics and oncologic outcomes using targeted NGS. Approximately 97.9% (142) of patients showed somatic mutations. Frequent mutations were observed in TP53 (70%), APC (60%), and KRAS (49%). TP53 mutations were significantly linked to higher overall stage (p = 0.038) and lower disease-free survival (DFS) (p = 0.039). ATM mutation was significantly associated with higher tumor stage (p = 0.012) and shorter overall survival (OS) (p = 0.041). Stage 3 and 4 patients with ATM mutations (p = 0.023) had shorter OS, and FBXW7 mutation was significantly associated with shorter DFS (p = 0.002). However, the OS of patients with or without TP53, RAS, APC, PIK3CA, and SMAD4 mutations did not differ significantly (p = 0.59, 0.72, 0.059, 0.25, and 0.12, respectively). Similarly, the DFS between patients with RAS, APC, PIK3CA, and SMAD4 mutations and those with wild-type were not statistically different (p = 0.3, 0.79, 0.13, and 0.59, respectively). In multivariate Cox regression analysis, ATM mutation was an independent biomarker for poor prognosis of OS (p = 0.043). A comprehensive analysis of the molecular markers for CRC can provide insights into the mechanisms underlying disease progression and help optimize a personalized therapy.
format	article
author	Chul Seung Lee In Hye Song Ahwon Lee Jun Kang Yoon Suk Lee In Kyu Lee Young Soo Song Sung Hak Lee
author_facet	Chul Seung Lee In Hye Song Ahwon Lee Jun Kang Yoon Suk Lee In Kyu Lee Young Soo Song Sung Hak Lee
author_sort	Chul Seung Lee
title	Enhancing the landscape of colorectal cancer using targeted deep sequencing
title_short	Enhancing the landscape of colorectal cancer using targeted deep sequencing
title_full	Enhancing the landscape of colorectal cancer using targeted deep sequencing
title_fullStr	Enhancing the landscape of colorectal cancer using targeted deep sequencing
title_full_unstemmed	Enhancing the landscape of colorectal cancer using targeted deep sequencing
title_sort	enhancing the landscape of colorectal cancer using targeted deep sequencing
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/bc1682915852470cb11b41551d5a7ba5
work_keys_str_mv	AT chulseunglee enhancingthelandscapeofcolorectalcancerusingtargeteddeepsequencing AT inhyesong enhancingthelandscapeofcolorectalcancerusingtargeteddeepsequencing AT ahwonlee enhancingthelandscapeofcolorectalcancerusingtargeteddeepsequencing AT junkang enhancingthelandscapeofcolorectalcancerusingtargeteddeepsequencing AT yoonsuklee enhancingthelandscapeofcolorectalcancerusingtargeteddeepsequencing AT inkyulee enhancingthelandscapeofcolorectalcancerusingtargeteddeepsequencing AT youngsoosong enhancingthelandscapeofcolorectalcancerusingtargeteddeepsequencing AT sunghaklee enhancingthelandscapeofcolorectalcancerusingtargeteddeepsequencing
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Enhancing the landscape of colorectal cancer using targeted deep sequencing

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