TableĀ 2.
C-codes reported in pathogenic/likely pathogenic DICER1 heterozygotes in the UK Biobank and Geisinger cohorts
| UK Biobank | ||||||
|---|---|---|---|---|---|---|
| DICER1 Variant | Sex | Age (y) | ICD9/10 | Age at Cancer (y) | Vital Status | |
| UKB1 | p.(Asp1414fs) | Female | 78 | C92.0 Acute myeloid leukemia | 77 | Died 78.1 (due to AML) |
| UKB2 | p.(Ser1344fs) | Female | 57 | 1944 Pineoblastoma | 15 | |
| D32.0 Meningiomac | 50 | |||||
| UKB3 | p.(Ser1216fs) | Female | 64 | 630 Choriocarcinoma | 23 | |
| UKB4 | p.(Phe854fs) | Female | 72 | C50.5 Breast cancer | 62 | |
| UKB5 | p.(Tyr936a) | Female | 81 | 1744 Breast cancer | 50 | |
| UKB6 | p.(Leu303fs) | Female | 67 | C50.4 Breast cancer | 56 | Died 67 (due to breast cancer) |
| UKB7 | p.(Cys1584fs) | Male | 76 | C61 Prostate cancer | 67 | |
| C44.4 Skin cancer, squamous cell carcinoma | 71 | |||||
| UKB8 | p.(Gln105a) | Female | 72 | C25.1 Pancreatic cancer | 68 | Died 72 (due to pancreatic cancer) |
| UKB9 | p.(Glu221a) | Female | 79 | C56 Ovarian cancer | 58 | |
| C50.4 Breast cancer | 68 | |||||
| UKB10 | p.(Val121fs) | Male | 76 | C91.1 Chronic lymphocytic leukemia | 72 | Died 76 |
| UKB11 | p.(Ser1629fs) | Female | 69 | C44.3 Skin cancer, basal cell carcinoma | 47 | |
| UKB12 | p.(Ser1101fs) | Male | 67 | C43.6 Skin cancer, superficial spreading melanoma | 62 | |
| Geisinger | ||||||
|---|---|---|---|---|---|---|
| DICER1 Variant | Sex | Age (y) | ICD10 | Age at Cancer (y) | Vital Status | |
| GHS1 | c.4050+1G>A | Female | 62 | C50.2 Breast cancer | 54 | |
| GHS2a | p.(Asn1668fs) | Male | 55 | C73.9 Papillary thyroid cancer | 36 | |
| GHS3a | p.(Ser1823fs) | Female | 44 | C75.3 Pineoblastoma | 14 | Died 44 |
| C70.0 Meningioma | 41 | |||||
| GHS4b | p.(Glu128fs) | Male | 67 | C34.1 Lung cancer | 62 | |
| GHS5b | p.(Glu128fs) | Female | 65 | C34.3 Lung cancer | 54 | |
AML, acute myeloid leukemia.
Please refer to Supplemental TableĀ 2 for additional variant information.
Previously reported.
Related individuals.
Meningioma found in this participant was reported in Cancer Registry with malignant histology.