Xeroderma pigmentosum variant: Complementary molecular approaches to detect a 13 base pair deletion in the DNA polymerase eta gene

► Molecular approaches that identify homozygous or heterozygous mutations in DNA repair genes can predict cancer risk or detect carriers. ► We designed complementary molecular assays to identify an inherited deletion within the DNA polymerase eta gene. ► Cycle sequencing, RFLP analysis and real-time PCR melt curves all distinguished normal and patient-derived polymerase eta genes. ► These methods are easily adaptable by diagnostic laboratories to identify mutational hotspots in genetic loci associated with disease processes.