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. 2022 Sep 16;13:5430. doi: 10.1038/s41467-022-33099-x

Table 1.

Tumor samples with an ETS binding site duplication in the TERT promoter

Duplicated Region1 Duplicated Sequence Insert Size (bp) Insert Position5 Other Acquired ETS Variants Age Race Sex Cancer Type Tumor Type Dataset
Start End
c.-100_-79 GGGCGGGGCCGCGGAAAGGAAG 22 1295182 1295183 NA NA NA NA Glioblastoma Multiforme NA Pierini et al.
c.-100_-792 GGGCGGGGCCGCGGAAAGGAAG 22 1295182 1295183 None 54 NA Male Glioblastoma Multiforme NA UCSF500
c.-100_-79 GGGCGGGGCCGCGGAAAGGAAG 22 1295182 1295183 G228A 29 NA Female Squamous Cell Carcinoma Metastasis UCSF500
c.-100_-79 GGGCGGGGCCGCGGAAAGGAAG 22 1295182 1295183 None 68 White Male Duodenal Adenocarcinoma Metastasis GENIE
c.-100_-793 GGGCGGGGCCGCGGAAAGGAAG 22 1295182 1295183 None 48 NA Male Glioblastoma Multiforme Primary UCSF500
c.-100_-793 GGGCGGGGCCGCGGAAAGGAAG 22 1295182 1295183 None 48 NA Male Glioblastoma Multiforme Primary UCSF500
c.-100_-793 GGGCGGGGCCGCGGAAAGGAAG 22 1295182 1295183 None 48 NA Male Glioblastoma Multiforme Recurrent UCSF500
c.‐104_‐83 GGGGCCGCGGAAAGGAAGGGGA 22 1295186 1295187 None 42 Asian Male Oral Cavity Squamous Cell Carcinoma Metastasis GENIE
c.‐104_‐83 GGGGCCGCGGAAAGGAAGGGGA 22 1295186 1295187 None 50 White Male Bladder Urothelial Carcinoma Primary GENIE
c.‐104_‐83 GGGGCCGCGGAAAGGAAGGGGA 22 1295186 1295187 None 68 Black Male Hepatocellular Carcinoma Primary GENIE
c.‐104_‐83 GGGGCCGCGGAAAGGAAGGGGA 22 1295186 1295187 NA NA NA NA Papillary Thyroid Cancer NA Panebianco et al.
c.-110_-89 GCGGAAAGGAAGGGGAGGGGCT 22 1295192 1295193 None 48 Asian Female Malignant Phyllodes Tumor of the Breast Primary GENIE
c.-110_-89 GCGGAAAGGAAGGGGAGGGGCT 22 1295192 1295193 None 64 White Male Glioblastoma Multiforme Primary GENIE
c.-110_-89 GCGGAAAGGAAGGGGAGGGGCT 22 1295192 1295193 None 65 NA Male Glioblastoma Multiforme Primary GENIE
c.-110_-894 GCGGAAAGGAAGGGGAGGGGCTA 23 1295192 1295193 None 69 White Female Papillary Thyroid Cancer Metastasis GENIE
c.-110_-894 GCGGAAAGGAAGGGGAGGGGCTA 23 1295192 1295193 None 72 White Female Poorly Differentiated Thyroid Cancer Metastasis GENIE
c.-110_-89 GCGGAAAGGAAGGGGAGGGGCT 22 1295192 1295193 NA NA NA NA Glioblastoma Multiforme NA Pierini et al.
c.-116_-96 GGAAGGGGAGGGGCTGGGAGG 21 1295199 1295200 None 64 White Male Hepatocellular Carcinoma Primary GENIE
c.-120_-96 GGAAGGGGAGGGGCTGGGAGGGCCC 25 1295199 1295200 None 80 NA Female Poorly Differentiated Thyroid Cancer NA UCSF500
c.-120_-96 GGAAGGGGAGGGGCTGGGAGGGCCC 25 1295199 1295200 None 68 White Male Hepatocellular Carcinoma Primary GENIE
c.-125_-106 GGGGCTGGGCTGGGAGGGCCCGGAA 25 1295228 1295229 G228A 69 White Male Bladder Urothelial Carcinoma Metastasis GENIE

1Duplicated region of the TERTp relative to TERT translation start site (ATG);

2SF5681.

3Primary and recurrent tumors for the same patient, SF12747 and SF13241;

4Two metastatic tumors for the same patient;

5Human reference genome hg19, chromosome 5; De novo native ETS 195 motif is in bold while de novo ETS 200 motif is underlined, and de novo ETS motif is in italic. Bold and italic nucleotides in the duplication sequence indicate a mismatch when compared to the duplication template sequence. NA Not available.