PMS2 and neoplasm: Pathogenic germline nonsense mutations in PMS2 (rs63750451) and MSH6 (rs267608094) were found in 2 patients (Supplementary Table 6 and Supplementary Fig. 9), however, there was no indication of dMMR in the patients’ tumours, as the tumour mutation burden in these samples was < 1 mutation/Mb.