Figure 2.

Germline and somatic mutation patterns of FLCN. (a) Birt–Hogg–Dubé (BHD) syndrome patient BHD9 carried FLCN germline mutation in exon 11 (upper left). The exon 10 sequence was confirmed to be wild-type (lower left). The patient's tumor BHD9-T2 showed somatic mutation in exon 10 (lower right) in addition to germline mutation (upper right). (b) BHD17 carried FLCN germline mutation in exon 11 (left). The mutation pattern was c.1285dupC. In the tumor lesion, heterozygous mutation in the C8 tract was completely replaced by a C9 tract, indicating loss of heterozygosity (right). No additional mutation was found in the other exons. Arrows indicate starting point of mutation.