Molecular pathology selected abstracts
February 2025—Excision repair cross-complementation group two (ERCC2) is a tumor-suppressor gene involved in DNA repair. Compound heterozygous mutations in ERCC2 are linked to rare recessive disorders, such as xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy, all of which are characterized by ultraviolet light sensitivity. Somatic ERCC2 mutations in cancers, particularly bladder cancers, have emerged as significant prognostic markers. The mutations predict platinum sensitivity and correlate with favorable outcomes in patients with bladder cancer, but they have not been identified as independent prognostic indicators due to a lack of data, resulting from limited cohort sizes. The authors conducted a study in which they investigated the impact of ERCC2 hotspot mutations on genomewide mutagenesis and their implications for cancer prognosis and therapeutic stratification.