Table 1 Tumor samples with an ETS binding site duplication in the TERT promoter

From: Conserved features of TERT promoter duplications reveal an activation mechanism that mimics hotspot mutations in cancer

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

  1. 1Duplicated region of the TERTp relative to TERT translation start site (ATG);
  2. 2SF5681.
  3. 3Primary and recurrent tumors for the same patient, SF12747 and SF13241;
  4. 4Two metastatic tumors for the same patient;
  5. 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.