Table 2

Probands and relatives with constitutional DICER1 mutations

IDPhenotypeAge at diagnosis (years)Current age (years)
Family 1 - c.4403_4406delCTCT
 ProbandPleuropulmonary blastoma1.55
Family 2 - c.1716delT
 ProbandPleuropulmonary blastoma0.82
Family 3 - c.1196_1197dupAG
 ProbandPleuropulmonary blastoma45
Family 4 - c.3505delT
 ProbandPleuropulmonary blastoma33
Family 5 - c.1966C>T p.R656X
 ProbandPleuropulmonary blastoma712
Family 6 - c.2268_2271delTTTG
 ProbandPleuropulmonary blastoma0.91
Family 7 - c.3665delT
 ProbandPleuropulmonary blastoma*4.2died 5.2
Family 8 - c.3583_3584delGA
 ProbandPleuropulmonary blastoma1.37
Intraocular medulloepithelioma6
Family 9 - c.2040+1 G>C
 ProbandPleuropulmonary blastoma313
 ParentThyroid cysts unclassified2538
Family 10 - c.3726C>A p.Y1242X
 ProbandPleuropulmonary blastoma415
 ParentThyroid cysts unclassified3037
Family 11 - c.5465A>T p.D1822V
 ProbandPleuropulmonary blastoma1.89
 ParentThyroid cysts unclassified2040
Family 12 - c.3288_3289insTTTC
 ProbandCystic nephroma1.511
 Half-siblingCystic nephroma0.85
 ParentMultinodular colloid goitre2539
Family 13 - c.328_338dupGTGTCAGCTGT
 ProbandCystic nephroma35
 ParentMultinodular colloid goitre2035
Thyroglossal duct cyst30
 GrandparentThyroid cysts unclassified766
Family 14 - c.5122_5128delGGAGATG
 ProbandOvarian Sertoli–Leydig cell tumour L1735
Ovarian Sertoli–Leydig cell tumour R27
 ParentOvarian Sertoli–Leydig cell tumour R2171
Endometrial cancer62
Breast cancer68
Family 15 - c.1966C>T_p.R656X
 ProbandOvarian Sertoli–Leydig cell tumour R1217
Ovarian Sertoli–Leydig cell tumour L14
Family 16 - c.3793delA
 ProbandOvarian sex cord stromal tumour R69
Family 17 - c.2988-2_2988-1delAGinsCT
 ProbandWilms tumour815
Multinodular thyroid goitre unclassified9
Ovarian Sertoli–Leydig cell tumour R12
Ovarian Sertoli–Leydig cell tumour L12
Family 18 - c.1153delC
 ProbandMedulloblastoma/infratentorial PNET1318
Family 19 - c.4740G>T p.Q1580H
  • * Individual deceased, no sample available.

  • This family includes a sibling with neuroblastoma; no sample available.