Molecular Phenotypes and Potential Therapeutic Targets in Esophagogastric Adenocarcinoma Unearthed by Whole Genome and Transcriptome Analyses
Windon, A.; Al Assaad, M.; Kevin, K.; Mendelson, N.; Hissong, E.; Deshpande, A.; Tranquille, M.; Mclee, J.; Patel, M.; Medina-Martinez, J. S.; Chiu, K.; Manohar, J.; Sigouros, M.; Ocean, A.; Sboner, A.; Jessurun, J.; Elemento, O.; Shah, M.; Mosquera, J. M.
Show abstract
BackgroundEsophagogastric adenocarcinoma demands a deeper molecular understanding to advance treatment strategies and improve patient outcomes. Here, we profiled the genome and transcriptome landscape of these cancers, explored molecular characteristics that are invisible to other sequencing platforms, and analyzed their potential clinical ramification. MethodsOur study employed state-of-the-art analyses of whole genome and transcriptome sequencing on 52 matched tumor and germline samples from 47 patients, aiming to unravel new therapeutic targets and deepen our understanding of these cancers molecular foundations. ResultsThe analyses revealed 88 targetable oncogenic mutations and fusions in 62% of the patients, and further elucidated molecular signatures associated with mismatch repair and homologous recombination deficiency. Notably, we identified CDK12-type genomic instability associated with CDK12 fusions, novel NTRK, NRG1, ALK, and MET fusions, and structural variants in relevant cancer genes like RAD51B. ConclusionsOur findings demonstrate the power of integrative whole genome and transcriptome sequencing in identifying additional therapeutic targets, supporting a promising path for precision medicine in treating esophagogastric adenocarcinoma.
Matching journals
The top 6 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Recurrent human papillomavirus-related head and neck cancer undergoes metabolic re-programming and is driven by oxidative phosphorylation 93%
- Multiomic characterisation of high grade serous ovarian carcinoma enables high resolution patient stratification 92%
- RRAS and RRAS2 mutations are recurrent oncogenic drivers in lung cancer and are sensitive to the pan-RAS inhibitor RMC-6236 92%
Similar papers in this journal
- Combination of hotspot mutations with methylation and fragmentomic profiles to enhance Multi-Cancer Early Detection 94%
- Detecting PI3K and TP53 Pathway Disruptions in Early-Onset Colorectal Cancer Among Hispanic/Latino Patients 92%
- Added-value of whole exome and RNA Sequencing in advanced and refractory cancer patients with no molecular-based treatment recommendation based on a 90-gene panel 92%
Similar papers in this journal
- Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer 95%
- Detection of Somatic Copy Number Deletion of CDKN2A Gene for Clinical Practices Based on Discovery of A Base-Resolution Common Deletion Region 95%
- Integrated molecular and pharmacological characterization of patient-derived xenografts from bladder and ureteral cancers identifies new potential therapies. 94%
Similar papers in this journal
Similar papers in this journal
- Body mass index and adiposity influence responses to immune checkpoint inhibition in endometrial cancer 94%
- Integrative analysis reveals therapeutic potential of pyrvinium pamoate in Merkel cell carcinoma 91%
- NF2 loss malignantly transforms human pancreatic acinar cells and enhances cell fitness under environmental stress 91%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.