作者
Rebeca Sanz-Pamplona, Adriana Lopez-Doriga, Laia Paré-Brunet, Kira Lázaro, Fernando Bellido, M Henar Alonso, Susanna Aussó, Elisabet Guinó, Sergi Beltrán, Francesc Castro-Giner, Marta Gut, Xavier Sanjuan, Adria Closa, David Cordero, Francisco D Morón-Duran, Antonio Soriano, Ramón Salazar, Laura Valle, Victor Moreno
发表日期
2015/10/15
期刊
Clinical cancer research
卷号
21
期号
20
页码范围
4709-4718
出版商
American Association for Cancer Research
简介
Purpose: Somatic mutations occur at early stages of adenoma and accumulate throughout colorectal cancer progression. The aim of this study was to characterize the mutational landscape of stage II tumors and to search for novel recurrent mutations likely implicated in colorectal cancer tumorigenesis.
Experimental Design: The exomic DNA of 42 stage II, microsatellite-stable colon tumors and their paired mucosae were sequenced. Other molecular data available in the discovery dataset [gene expression, methylation, and copy number variations (CNV)] were used to further characterize these tumors. Additional datasets comprising 553 colorectal cancer samples were used to validate the discovered mutations.
Results: As a result, 4,886 somatic single-nucleotide variants (SNV) were found. Almost all SNVs were private changes, with few mutations shared by more than one tumor …
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R Sanz-Pamplona, A Lopez-Doriga, L Paré-Brunet… - Clinical cancer research, 2015