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. 2024 Apr 11;2:101846. doi: 10.1016/j.gimo.2024.101846

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.

a

Previously reported.

b

Related individuals.

c

Meningioma found in this participant was reported in Cancer Registry with malignant histology.