title: Genomic characterization of esophageal squamous cell carcinoma: Insights from next-generation sequencing.
abstract: Two major types of cancer occur in the esophagus: squamous cell carcinoma, which is associated with chronic smoking and alcohol consumption, and adenocarcinoma, which typically arises in gastric reflux-associated Barrett's esophagus. Although there is increasing incidence of esophageal adenocarcinoma in Western counties, esophageal squamous cell carcinoma (ESCC) accounts for most esophageal malignancies in East Asia, including China and Japan. Technological advances allowing for massively parallel, high-throughput next-generation sequencing (NGS) of DNA have enabled comprehensive characterization of somatic mutations in large numbers of tumor samples. Recently, several studies were published in which whole exome or whole genome sequencing was performed in ESCC tumors and compared with matched normal DNA. Mutations were validated in several genes, including in TP53, CDKN2A, FAT1, NOTCH1, PIK3CA, KMT2D and NFE2L2, which had been previously implicated in ESCC. Several new recurrent alterations have also been identified in ESCC. Combining the clinicopathological characteristics of patients with information obtained from NGS studies may lead to the development of effective diagnostic and therapeutic approaches for ESCC. As this research becomes more prominent, it is important that gastroenterologist become familiar with the various NGS technologies and the results generated using these methods. In the present study, we describe recent research approaches using NGS in ESCC.
authors.affiliation: Yasushi Sasaki, Miyuki Tamura, Ryota Koyama, Takafumi Nakagaki, Takashi Tokino, Department of Medical Genome Sciences, Research Institute for Frontier Medicine, Sapporo Medical University, Sapporo 060-8556, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Sasaki
authors.affiliation: Yasushi Sasaki, Miyuki Tamura, Ryota Koyama, Takafumi Nakagaki, Takashi Tokino, Department of Medical Genome Sciences, Research Institute for Frontier Medicine, Sapporo Medical University, Sapporo 060-8556, Japan.
authors.forename: Miyuki
authors.initials: M
authors.lastname: Tamura
authors.affiliation: Yasushi Sasaki, Miyuki Tamura, Ryota Koyama, Takafumi Nakagaki, Takashi Tokino, Department of Medical Genome Sciences, Research Institute for Frontier Medicine, Sapporo Medical University, Sapporo 060-8556, Japan.
authors.forename: Ryota
authors.initials: R
authors.lastname: Koyama
authors.affiliation: Yasushi Sasaki, Miyuki Tamura, Ryota Koyama, Takafumi Nakagaki, Takashi Tokino, Department of Medical Genome Sciences, Research Institute for Frontier Medicine, Sapporo Medical University, Sapporo 060-8556, Japan.
authors.forename: Takafumi
authors.initials: T
authors.lastname: Nakagaki
authors.affiliation: Yasushi Sasaki, Miyuki Tamura, Ryota Koyama, Takafumi Nakagaki, Takashi Tokino, Department of Medical Genome Sciences, Research Institute for Frontier Medicine, Sapporo Medical University, Sapporo 060-8556, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Adachi
authors.affiliation: Yasushi Sasaki, Miyuki Tamura, Ryota Koyama, Takafumi Nakagaki, Takashi Tokino, Department of Medical Genome Sciences, Research Institute for Frontier Medicine, Sapporo Medical University, Sapporo 060-8556, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Tokino
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics* / Q000378:metabolism; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D004252:DNA Mutational Analysis; D004938:Esophageal Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000628:therapy; D000077277:Esophageal Squamous Cell Carcinoma; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D023281:Genomics / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009154:Mutation; D010641:Phenotype; D057285:Precision Medicine; D011237:Predictive Value of Tests; D011379:Prognosis; D015398:Signal Transduction
chemical_list: D014408:Biomarkers, Tumor
keywords: Copy number variant; Driver mutation; Esophageal squamous cell carcinoma; Next-generation sequencing; Somatic mutation