Furthermore, in enriched cohorts (i.e., selected for personal and/or family history) pathogenic variants in BRCA1 and 2, CHEK2, HERC2, MUTYH, NF1, POT1 and TERF2 have been associated with glioblastoma20,28–30, although their contribution to glioblastoma development remains unclear, since second-hit somatic variants were not observed for many29. The gene discussed is CHEK2; the disease is glioblastoma.