Table 1.
Pathogenic mutations identified among 41 patients with pheochromocytomas and paragangliomas from Nancy, France, and from Linköping, Sweden.
| Sample | Gene | Mutation | Protein Variation | Mutation Status | Previously Reported |
|---|---|---|---|---|---|
| French cohort | |||||
| F3 | NF1 | c.2044C>T | Q682X | Unknown | Yes (rs1597712392) |
| F4 | RET | c.2753T>C | M918T | Somatic | Yes (rs74799832) |
| F5 | CSDE1 | c.1660C>T | R554X | Unknown | No |
| F6 | RET | c.1900T>C | C634R | Germline | Yes (rs75076352) |
| F7 † | SDHD | c.205_217 del | S69fs | Unknown | No |
| F8 | HRAS | c.37G>C | G13R | Germline | Yes (rs104894228) |
| F9 | EGLN1 | c.153G>A | W51X | Unknown | No |
| F10 | HRAS | c.181C>A | Q61K | Somatic | Yes (rs28933406) |
| F14 | NF1 | c.1885G>A | G629R | Germline | Yes (rs199474738) |
| F20 | NF1 | c.1466A>G | Y489C | Somatic | Yes (rs137854557) |
| F23 | RET | c.1853G>A | C618Y | Somatic | Yes(rs79781594) |
| F24 | RET | c.1900T>C | C634R | Germline | Yes (rs75076352) |
| F27 † | HRAS | c.182A>T | Q61L | Somatic | Yes (rs121913233) |
| F28 | RET | c.2753T>C | M918T | Somatic | Yes (rs74799832) |
| F30 | RET | c.1832G>A | C611Y | Germline | Yes (rs377767397) |
| F31 | NF1 | c.5704_5705 insC | L1902fs | Somatic | No |
| F35 | NF1 | c.3674_3688 del | A1226_V1230 del | Somatic | No |
| F37 | RET | c.2753T>C | M918T | Somatic | Yes (rs74799832) |
| F38 | NF1 | c.7301_7302 delAG | Q2434fs | Somatic | No |
| F41 | RET | c.1902C>G | C634W | Somatic | Yes (rs77709286) |
| F43 † | EGLN1 | c.607_619 del | N203fs | Germline | No |
| F45 | NF1 | c.1904_1907 del | P635fs | Germline | No |
| F58 | SDHA | c.1432_1432+1delGG | 428? | Germline | Yes (rs878854627) |
| F59 | NF1 | c.6841G>T | G2281X | Somatic | Yes [38] |
| F60 | SDHD | c.187_188 delTC | L64fs | Unknown | Yes (rs387906358) |
| Swedish cohort | |||||
| PH 37 | HRAS | c.182A>G | Q61R | Somatic | Yes (rs121913233) |
| PH 38 | EPAS1 | c.1235T>A | I412N | Somatic | Yes [39] |
| PH 40 | FGFR1 | c.1638C>T | R546K | Somatic | Yes [25] |
| PH 41 | HRAS | c.37G>C | G13R | Somatic | Yes [40] |
| PH 42 | RET | c.1893_1898delCGAGCT | Asp631_Leu633delinsGlu | Somatic | Yes (rs121913307) |
| PH 44 | NF1 | c.1340T>C | L447P | Somatic | Yes [22] |
| PH 57 | NF1 | c.4798_4799delAA | K1600fs | Somatic | Yes [25] |
| PH 60 | RET | c.2753T>C | M918T | Somatic | Yes (rs74799832) |
| PH 61 | NF1 | c.2806A>T | K936X | Somatic | Yes [25] |
| PH 62 | VHL | c.284C>G | P95R | Somatic | Yes [25] |
| PH 64 | FGFR1 | c.1638C>T | R546K | Somatic | Yes (rs779707422) |
| PH 65 | RET | c.2753T>C | M918T | Germline | Yes (rs74799832) |
| PH 66 | NF1 | c.289C>T | Q97X | Somatic | Yes (rs1597635615) |
| PH 67 | SDHB | c.664delT | G228fs | Germline | Yes [25] |
| PH 68 | HRAS | c.37G>C | G13R | Somatic | Yes (rs104894228) |
| PH80 | NF1 | c.3158C>G | S1053X | Unknown | Yes (rs1597717610) |
† Paragangliomas; unknown, no normal tissue available.