Table 2. Summary of reviewed reports with BHD germline mutations and general clinical characteristics, excluding National Cancer Institute reports.
| Reference | No. of patients | Clinical FF (Bx FF) (pos/neg/unk) | Renal tumour med Hx, and/or CT or MRI (yes/no/unk) | Lung cysts (pos/neg/unk) | Hx pneumo (yes/no/unk) | Germline mutations |
| Khoo et al 20025 | 21 | Pos 16/21 (16 Bx+) | Yes 2/15; Unk 6 | Unk 21/21 | Yes 8/21 | c.1733delC, c.1733insC |
| Van Steensel et al 20077 | 6 | Pos 6/6 (6 Bx+) | No 5/5; 1 Unk | Neg 5/5 | Yes 1/5 | c.1863-1873delGGGAGCCCTGT |
| Ukn 1 | 1 Unk | c.1755G>C, c. 875delC, | ||||
| c.1733insC, IVS10-2 A>G | ||||||
| Leter et al 20088 | 23 | Pos 18/23 (18 Bx+) | Yes 2/25 | Ukn 25/25 | Yes 4/25 | c.1065-6delGCinsTA, |
| 2 Ukn | c.1733insC, c.875delC, c.1110dupG | |||||
| c.1756-7del11;1778delCinsGA | ||||||
| c.IVS 6-1 G>A | ||||||
| Gunji et al 20079 | 5 | Neg 5/5 | No 5/5 | Pos 5/5 | Yes 5/5 | c. IVS5-1delgtccctccag, |
| HRCT | c.1795 insCCACCCT, c.1733insC | |||||
| c.1988delGATG, c.857delC | ||||||
| Graham et al 200510 | 11 | Ukn 11/11 | No 11/11 | Pos 6/6 | Yes 10/10 | c.1398G>T, c.1884C>T |
| Ukn 5 | 1 Ukn | |||||
| Painter et al 200511 | 12 | Unk 12/12 | No 12/12 | Pos 12/12 | Yes 5/12 | c.690-3delTCGG |
| Kawasaki et al 200512 | 2 | Pos 2/2 (2 Bx+) | No 2/2 | Unk 2/2 | No 2/2 | c.1733insC |
| Lamberti et al 200513 | 1 | Pos 1/1 (Bx+) | Ukn | Unk | Ukn | c.1733insC |
| Bessis et al 200614 | 2 | Pos 1/2 (1 Bx+) | No 2/2 | 1 Neg; 1 Unk | Yes 1/2 | c.458delG |
| Murakami et al 200715 | 1 | Ukn 1 | Yes | Neg | No | c.1733insC |
| Chest CT | ||||||
| Total | 85* | 43/59 Pos(43 Bx+) | Yes 5/77 | 23/30 Pos | Yes 33/82 | |
| Ukn 26 | Ukn 8 | Ukn 55 | Ukn 3 |