Probands and relatives with constitutional DICER1 mutations
| ID | Phenotype | Age at diagnosis (years) | Current age (years) |
| Family 1 - c.4403_4406delCTCT | |||
| Proband | Pleuropulmonary blastoma | 1.5 | 5 |
| Parent | None | 40 | |
| Uncle | None | 44 | |
| Grandparent | None | 68 | |
| Family 2 - c.1716delT | |||
| Proband | Pleuropulmonary blastoma | 0.8 | 2 |
| Parent | None | 36 | |
| Family 3 - c.1196_1197dupAG | |||
| Proband | Pleuropulmonary blastoma | 4 | 5 |
| Parent | None | 30 | |
| Aunt | None | 26 | |
| Grandparent | None | 62 | |
| Family 4 - c.3505delT | |||
| Proband | Pleuropulmonary blastoma | 3 | 3 |
| Sibling | None | 12 | |
| Parent | None | 36 | |
| Family 5 - c.1966C>T p.R656X | |||
| Proband | Pleuropulmonary blastoma | 7 | 12 |
| Parent | None | 52 | |
| Family 6 - c.2268_2271delTTTG | |||
| Proband | Pleuropulmonary blastoma | 0.9 | 1 |
| Parent | None | 38 | |
| Family 7 - c.3665delT | |||
| Proband | Pleuropulmonary blastoma* | 4.2 | died 5.2 |
| Parent | None | 36 | |
| Family 8 - c.3583_3584delGA | |||
| Proband | Pleuropulmonary blastoma | 1.3 | 7 |
| Intraocular medulloepithelioma | 6 | ||
| parent | None | 29 | |
| Family 9 - c.2040+1 G>C | |||
| Proband | Pleuropulmonary blastoma | 3 | 13 |
| Parent | Thyroid cysts unclassified | 25 | 38 |
| Family 10 - c.3726C>A p.Y1242X | |||
| Proband | Pleuropulmonary blastoma | 4 | 15 |
| Parent | Thyroid cysts unclassified | 30 | 37 |
| Family 11 - c.5465A>T p.D1822V† | |||
| Proband | Pleuropulmonary blastoma | 1.8 | 9 |
| Parent | Thyroid cysts unclassified | 20 | 40 |
| Family 12 - c.3288_3289insTTTC | |||
| Proband | Cystic nephroma | 1.5 | 11 |
| Half-sibling | Cystic nephroma | 0.8 | 5 |
| Parent | Multinodular colloid goitre | 25 | 39 |
| Family 13 - c.328_338dupGTGTCAGCTGT | |||
| Proband | Cystic nephroma | 3 | 5 |
| Parent | Multinodular colloid goitre | 20 | 35 |
| Thyroglossal duct cyst | 30 | ||
| Grandparent | Thyroid cysts unclassified | 7 | 66 |
| Great-aunt | None | 59 | |
| Family 14 - c.5122_5128delGGAGATG | |||
| Proband | Ovarian Sertoli–Leydig cell tumour L | 17 | 35 |
| Ovarian Sertoli–Leydig cell tumour R | 27 | ||
| Parent | Ovarian Sertoli–Leydig cell tumour R | 21 | 71 |
| Melanoma | 50 | ||
| Endometrial cancer | 62 | ||
| Breast cancer | 68 | ||
| Family 15 - c.1966C>T_p.R656X | |||
| Proband | Ovarian Sertoli–Leydig cell tumour R | 12 | 17 |
| Ovarian Sertoli–Leydig cell tumour L | 14 | ||
| Parent | None | 50 | |
| Family 16 - c.3793delA | |||
| Proband | Ovarian sex cord stromal tumour R | 6 | 9 |
| Parent | None | 29 | |
| Family 17 - c.2988-2_2988-1delAGinsCT | |||
| Proband | Wilms tumour | 8 | 15 |
| Multinodular thyroid goitre unclassified | 9 | ||
| Ovarian Sertoli–Leydig cell tumour R | 12 | ||
| Ovarian Sertoli–Leydig cell tumour L | 12 | ||
| Parent | None | 40 | |
| Family 18 - c.1153delC | |||
| Proband | Medulloblastoma/infratentorial PNET | 13 | 18 |
| Family 19 - c.4740G>T p.Q1580H | |||
| Proband | Seminoma | 32 | 46 |