FANCD2 and cancer: Among the identified somatic mutations, 13 alterations were previously found clinically relevant according to ClinVar or mutated in other cancers as summarized by COSMIC, including RS1 R209H, PIK3CA E542K, MLL3 R199*, LRIG3 E576K, KLHL3 S410L, FANCD2 L1134V, DNAH7 R1957* (BLCAb001); and PIK3CA E545K, NCSTN S389C, MYD88 S219C, CREBBP W1472C, CFTR R1066C, CDKN2A E69*(BLCAb002) (Figure 1C).