![]() Recent work revealed that PTEN-deficient EC cell lines are sensitive to PARP inhibitors, pointing to a potential Achille’s heel for targeted therapy in EC. ![]() MSI-associated truncating mutations in ATR are loss-of-function mutations that are significantly associated with both disease-free survival and overall survival in multivariate analyses., Early-stage EECs with and without MSI exhibit distinct gene expression profiles.įor example, PTEN plays an important role in the maintenance of genomic integrity. ![]() Many of these genes, including ATR, are involved in the DNA damage response. A number of target genes have been described in EC, although it is worth noting that most studies do not state whether the tumors occurred sporadically or in the context of Lynch syndrome. MLH1 and other mismatch repair genes are among the so-called “caretaker genes” that normally function to preserve genomic stability loss of their function leads to the accumulation of mutations in other target genes that drive tumorigenesis. Likewise, certain MSH6 mutations have recently been proposed to occur secondarily to MSI. ![]()
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