The most common gene with PVs identified in the eoRC patients was the DDRR gene CHEK2 (19/844, 2.25%, Fig. 2A, Table S3 and S4), consistent with a recent report by Carlo et al.16 Of patients with CHEK2 PVs, 47.3% (n = 9/19) had a common, highly damaging variant (c.1100delC, p.Thr367Metfs) that is known to be associated with an increased risk for breast, prostate, colorectal and thyroid cancers (Table S4)34–37. This evidence concerns the gene CHEK2 and thyroid gland carcinoma.