TABLE 1.
Biallelic HNF1Α mutations identified in HCA
| No. | Tumor tissue |
|
|---|---|---|
| Allele 1 | Allele 2 | |
| Somatic origin | ||
| 154* | 872–873insC, P291fs† | 749A>C, Q250P |
| 196* | 379 A>T, N127Y | 495G>T, W165C |
| 357*‡ | IVS2 + 1G>A, W165X† | 618G>T, W206C |
| 358*‡ | 617G>T, W206L | 872–884del, P291fs |
| 368*‡ | 710A>G, N237S | LOH |
| 369*‡ | 436–437delC, Q146fs | LOH |
| 370*‡ | 872–873insC, P291fs† | 803T>G, F268C |
| 371*‡ | 617G>T, W206L | 730A>G, R244G |
| 373*‡ | 82C>T, Q28X† | LOH |
| 380‡ | 196G>T, E66X | 779C>T, T260M† |
| 383‡ | 493T>A, W165R | 1340C>T, P447L† |
| 384* | 17–35insT, 7–12del | 26–32del, Q9fs |
| 385*‡ | 817A>G, K273E | LOH |
| 461‡ | 872–873insC, P291fs† | 872–873delC, P291fs† |
| 462‡ | 632A>C, Q211P | 670C>G, P224A |
| 463 | 632A>C, Q211P | 617G>T, W206L |
| 464‡ | 71–82del, A25-Q28del | 747–764del, Q250-G255del |
| 474‡ | 617G>T, W206L | LOH |
| 476‡ | 232–245dup, T81fs | 1,288–1289delG, G430fs |
| 496 | 872–873insC, P291fs† | 796–798dup, N266dup |
| 508‡ | 77T>A, L26Q | 872–873delC, P291fs† |
| 516‡ | 185–194del, N62fs | 788G>A, R263H† |
| 532‡ | 198–202del, T67fs | 618G>T, W206C |
| 535‡ | 617G>T, W206L | 872–873insC, P291fs† |
| 539‡ | 686G>A, R229Q† | 775G>C, V259L |
| 540‡ | 618G>T, W206C | LOH |
| 546‡ | 1 A>G, M1X | 620G>A, G207D† |
| 575‡ | IVS2 + 1 del13 | 956–957delG, G319fs |
| 578 | 788 G>T, R263L† | IVS5 + 1 G>T |
| 579 | 132–156del, D45fs | 872–873insC, P291fs† |
| 583‡ | 811–818del, R271fs | 815G>A, R272H† |
| 584‡ | 607C>T, R203C† | 710A>G, N237S |
| 591‡ | 787C>T, R263S | LOH |
| 592‡ | 526C>T, Q176X† | IVS5–2 A>G† |
| 621 | 711 T>G, N237K | 872–873insC, P291fs† |
| 633 | 872–873insC, P291fs† | 650–654del, A217fs |
| 635 | 618G>C, W206C | 872–873insC, P291fs† |
| 682‡ | 197–198insA, T67fs | 872–873insC, P291fs† |
| 683 | 695–697del, V233del | 613 A>C, K205Q† |
| 687‡ | 814C>A, R272S† | LOH |
| 688 | 710A>G, N237S | LOH |
| 689 | IVS1 + 2delTA | 56 C>A, S19X |
| 690 | IVS1–2 A>T | 872–873insC, P291fs† |
| 694‡ | 682G>T, E228X | IVS2–2 A>G |
| 695 | 105–144delinsTTC, P35fs | IVS2–2 A>G |
| 696‡ | 872–873insC, P291fs† | 1168G>T, E390X |
| 699‡ | 685C>G, R229G | 710–711insA, N237fs |
| 705‡ | 618G>T, W206C | 631C>T, Q211X |
| 749 | 618G>T, W206C | LOH |
| 759 | IVS2 + 1 G>A† | 608G>T, R203L |
| 761 | 617G>T, W206L | 618–628del, W206fs |
| 762 | IVS2 + 1 G>A† | LOH |
| 763 | 872–873insC, P291fs† | IVS2 + 1 G>A† |
| 778 | 1,067–1073del7, L356fs | 1441C>T, Q481X |
| 785 | 108C>A, Y36X | 570–577del, T191fs |
| 806 | 618G>T, W206C | 872–873insC, P291fs† |
| 814 | 476G>A, R159Q† | 872–873insC, P291fs† |
| 815 | 779C>T, T260M† | 872–873insC, P291fs† |
| 816 | 872–873insC, P291fs† | IVS3 + 8, insAGT, dup637-IVS3 + 7 |
| 817 | 196G>T, E66X | 711T>A, N237K |
| 818 | 710A>G, N237S | 872–873delC, P291fs† |
| 829 | 695T>A, L232Q | 931–932delGinsACCTA, A311fs |
| 831 | 815G>A, R272H† | 872–873insC, P291fs† |
| 833 | 607C>T, R203C† | LOH |
| 850 | 872–873insC, P291fs† | 133–149del, D45fs |
| 851 | 872–873delC, P291fs† | LOH |
| 856 | 872–873delC, P291fs† | 770A>C, N257T |
| 957 | 730A>G, R244G | 1,274–1275delC, T425fs |
| 964 | 629C>T, S210F | LOH |
| 971 | 620G>A, G207D† | 872–873delC, P291fs† |
| 972 | 618G>T, W206C | 1,249–1250insT, G417fs |
| 1,025 | 97–103del, P33fs | 872–873insC, P291fs† |
| Germline origin (allele 1) | ||
| 340*‡ | 685C>T, R229X† | LOH |
| 487‡ | 814 C>A, R272S† | LOH |
| 509‡ | 391C>T, R131W† | 872–873delC, P291fs† |
| 514‡ | 829–837del, F277-H279 | 872–873insC, P291fs† |
| 518‡ | 164–168del, G55fs† | LOH |
| 523‡ | 872–873insC, P291fs† | LOH |
| 590‡ | 257–258delT, L86fs | IVS2 + 1 G>T |
| 965 | 252–258del, I85fs | 815G>A, R272H† |
| Undetermined origin | ||
| 479‡ | 476–479del, R159Pfs | 811C>T, R271W† |
| 482‡ | 653 A>G, Y218C† | LOH |
| 489‡ | IVS1–2 A>T | 1,072–1073delCins11, P358fs |
| 548 | IVS1–1 G>T | 1,072–1073delCins11, P358fs |
| 951 | 534–535insA, H179fs | 779C>T, T260M† |
Cases of HCA were previously described in *Bluteau et al. (5) or ‡Zucman-Rossi et al. (8). MODY3 mutations were previously described in †Ellard and Colclough (25) or Bellanné-Chantelot et al. (21). Case 535 has a third somatic mutation, 51–60delins6, S19fs. Boldface indicates allele 1. del, deletion; fs, frameshift; IVS, intervening sequence; LOH, loss of heterozygosity; ins, insertion; Nm, nonmutated.