Aurel Prosz, Pranshu Sahgal, Brandon M Huffman, Zsofia Sztupinszki, Clare X Morris, David Chen, Judit Börcsök, Miklos Diossy, Viktoria Tisza, Sandor Spisak, Pornlada Likasitwatanakul, Orsolya Rusz, Istvan Csabai, Michael Cecchini, Yasmine Baca, Andrew Elliot, Peter Enzinger, Harshabad Singh, Jessalyn Ubellaker, Jean-Bernard Lazaro, James M Cleary, Zoltan Szallasi, Nilay S Sethi
Homologous recombination (HR) and nucleotide excision repair (NER) are the two most frequently disabled DNA repair pathways in cancer. HR-deficient breast, ovarian, pancreatic and prostate cancers respond well to platinum chemotherapy and PARP inhibitors. However, the frequency of HR deficiency in gastric and esophageal adenocarcinoma (GEA) still lacks diagnostic and functional validation. Using whole exome and genome sequencing data, we found that a significant subset of GEA, but very few colorectal adenocarcinomas, show evidence of HR deficiency by mutational signature analysis (HRD score)...
April 8, 2024: NPJ Precision Oncology