Figure 3. BHD germline mutation reported by the National Cancer Institute (NCI) group and other investigators. (A) Illustration of the 55 germline BHD mutations identified by the NCI. The 23 unique BHD mutations identified in the present study are shown in red. The star indicates mutations identified in both the present study and the previous NCI study.6 The 22 unique mutations previously reported by NCI are shown in black.6 (B) Lower panel shows the 18 germline BHD mutations reported by other investigators.5 7–15 Mutations shown in blue were identified by both the NCI group and other investigators. The parenthesis show the original nomenclature used in the original reports.
