A Classification and impact of DICER1 germline mutations in DICER1 protein and predicted clinical consequences
| Case No. | Age, years | Gender | DICER1 variant type | DICER1 variant and protein | ClinVar | Predictive consequence (PolyPhen/MT) | Associated mutation | Variant of associated mutation | MAF | Histologic subtype |
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| TCGA-DJ-A2PV | 53 | F | germline | c. 1887G>A (p. Thr629Thr) | likely benign/benign: 5 cases with PPB or DICER1-related PPB CPS/hereditary CPS | benign | BRAF | BRAF: p. V600E:22 | <0.02 | FV-PTC |
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| TCGA-E8-A416 | 51 | F | germline | c.4680G>A (p. Ala1560Ala) | benign: 5 cases with PPB or DICER1-related PPB CPS/hereditary CPS | benign | Other | − | <0.02 | OV-PTC |
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| TCGA-DE-AOXZ | 65 | F | germline | c.4891T>G (p. Serl631Ala) | likely benign: 4 cases with PPB or DICER1-related PPB CPS/hereditary CPS | likely benign | BRAF | BRAF: p. V600E:22 | <0.02 | OV-PTC |
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| TCGA-BJ-A45H | 45 | M | germline | c.2614G>A (p. Ala872Thr) | likely benign/benign-5 cases with PPB or DICER1-related PPB CPS/hereditary CPS | not provided | Other | − | <0.02 | classic PTC-O |
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| TCGA-E8-A437 | 27 | F | germline | c.2557A>G (p. Ile853Val) | likely benign/benign: 3 cases with DICER1-related PPB CPS/hereditary CPS | not provided | BRAF | BRAF: p. V600E:13 | <0.02 | OV-PTC |
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| TCGA-DJ-A2Q9 | 65 | F | germline | c.59C>T (p. Ala20Val) | uncertain significance1: 5 cases | likely benign | BRAF | BRAF: p. V600E:3 | <0.02 | OV-PTC |
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| TCGA-FE-A232 | 44 | F | germline | c.20A>G (p. Gln7Arg) | likely benign/benign: 6 cases with PPB or DICER1-related PPB CPS/hereditary CPS | benign | BRAF | BRAF: p. V600E:20 | <0.02 | OV-PTC |
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| TCGA-EM-A4FV | 64 | F | germline | c.5507C>T (p. Pro1836His) | uncertain significance2: 1 case | probably damaging | EIF1AX | EIF1AX: p. A113_splice:7 | <0.02 | classic PTC |
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| TCGA-EM-A2CP | 26 | F | germline | c.5013G>C (p. Lys1671Asn) | uncertain significance: 1 case with DICER1-related PPB CPS | benign | Other | − | <0.02 | OV-PTC |
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| TCGA-EL-A3CO | 88 | M | germline | c.4260_4262delGGA (p. Glu1420del) | likely benign/benign: 5 cases with PPB or DICER1-related PPB CPS/hereditary CPS | not provided | EIF1AX | EIF1AX: p. G9D:15 | <0.02 | FV-PTC |
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| TCGA-FE-A3PB | 33 | F | germline | c.3778G>A (p. Val1260Ile) | uncertain significance: 1 case with DICER1-related PPB CPS | benign | BRAF | BRAF: p. V600E:22 | <0.02 | HV-PTC |
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| TCGA-BJ-AOZJ | 36 | M | germline | c.2951A>C (p. Asn984Thr) | uncertain significance: 3 cases with HNPCC | possibly damaging | Other | − | <0.02 | FV-PTC |
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| TCGA-DO-A1K0 | 30 | F | germline | c.2951A>C (p. Asn984Thr) | uncertain significance: 3 cases with HNPCC | possibly damaging | BRAF | BRAF: p. V600E:41 | <0.02 | classic PTC |
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| TCGA-EM-A1CU | 31 | M | germline | c.2951A>C (p. Asn984Thr) | uncertain significance: 3 cases with HNPCC | possibly damaging | BRAF | BRAF: p. V600E:34 | <0.02 | classic PTC |
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| TCGA-H2-A2K9 | 25 | M | germline | c.2512T>G (p. Leu838Val) | − | benign | NRAS | NRAS: p. Q61R:59 | <0.02 | FV-PTC |
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| TCGA-DJ-A3V2 | 44 | F | germline | c.1904A>G (p. Asn635Ser) | uncertain significance: 2 cases with DICER1-related PPB CPS/hereditary CPS | possibly damaging | Other | − | <0.02 | FV-PTC |
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| TCGA-EL-A3T3 | 63 | M | germline | c.1795A>G (p. Thr599Ala) | uncertain significance: 1 case with DICER1-related PPB CPS | benign | BRAF | BRAF: p. V600E:31 | <0.02 | classic PTC-A |
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| TCGA-E8-A413 | 38 | F | germline | c.-3T>C | uncertain significance/likely benign. 5 cases with hereditary CPS/HBOC | not provided | BRAF | BRAF: p. V600E:23 | <0.02 | classic PTC |