2021
DOI: 10.3390/cancers13174300
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Genomic and Transcriptomic Characteristics of Esophageal Adenocarcinoma

Abstract: Esophageal adenocarcinoma (EAC) is a deadly disease with limited options for targeted therapy. With the help of next-generation sequencing studies over the last decade, we gained an understanding of the genomic architecture of EAC. The tumor suppressor gene TP53 is mutated in 70 to 80% of tumors followed by genomic alterations in CDKN2A, KRAS, ERBB2, ARID1A, SMAD4 and a long tail of less frequently mutated genes. EAC is characterized by a high burden of point mutations and genomic rearrangements, resulting in … Show more

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Cited by 5 publications
(4 citation statements)
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“…The genomics of EAC is complex and involves a high mutational burden and chromosomal instability [21 ▪ ]. In the setting of highly heterogeneous genomic pathways, it is extremely challenging to map the transition from genotype to phenotype.…”
Section: The Pathway From Genotype To Phenotypementioning
confidence: 99%
“…The genomics of EAC is complex and involves a high mutational burden and chromosomal instability [21 ▪ ]. In the setting of highly heterogeneous genomic pathways, it is extremely challenging to map the transition from genotype to phenotype.…”
Section: The Pathway From Genotype To Phenotypementioning
confidence: 99%
“…Risk factors for EA include Barrett's esophagus, gastroesophageal reflux disease, Caucasian race, male gender, obesity, smoking, and some genetic factors (2). EA has shown a poor prognosis, with an overall survival rate of approximately 20% at 5 years (3). Recently, with the development of neoadjuvant chemoradiotherapy and radiotherapy, survival rates have improved in patients with locally advanced EA compared to surgery alone, but there is wide interindividual variation in response to neoadjuvant therapy (4).…”
Section: Introductionmentioning
confidence: 99%
“…The genomic complexity of EA is characterized by a high burden of point mutations and genome structural alterations, including TP53, CDKN2A, KRAS, MYC, and CDK6 (3). Rapid advances in high throughput technologies over the past decade have helped researchers generate numerous genetic and genomic datasets in order to reveal causal genes and their actions in complex diseases (5).…”
Section: Introductionmentioning
confidence: 99%
“…Previous studies have revealed that EAC is a heterogeneous cancer with a high mutational burden in TP53, CDKN2A, SMAD4, APC, KRAS, MYC, ERBB2, GATA4, PTEN and ARID1A, and with high chromosomal instability [9][10][11][12] . Somatic mutations of TP53, SMAD4, and GATA4 have been reported to be associated with poor prognosis in EAC [13][14][15] . A dominant A > C at AA dinucleotides mutational pattern has been found in EAC and is associated with acid re ux 10,12,16 .…”
Section: Introductionmentioning
confidence: 99%