Table 1 Clinical characteristics of the study cohort

From: Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas

Tumor type (n = 426)

Result of 76–90 gene germline P/LP sequencing

Sex

Age at diagnosis, median (years)

Ancestry, n

ES (n = 90)

Positive tier 1 (n = 7, 7.8%)

4F/3M

21.0 (13–39)

EUR: 2, ASJ: 1, EAS: 2, ADM: 1, NA: 1

Positive tier 2 (n = 8, 8.9%)

5F/3M

22.5 (13–41)

EUR: 3, ASJ: 3, ADM: 2

Negative (n = 75, 83.3%)

25F/50M

16 (2.7–50)

EUR: 43, ASJ: 13, ADM: 9, SAS: 4, EAS: 3, NA: 3

DSRCT (n = 80)

Positive tier 1 (n = 4, 5%)

4M

29 (13–33)

EUR: 1, NAM: 1, NA: 2

Positive tier 2 (n = 4, 5%)

4M

17 (8–27)

EUR: 2, ASJ: 1, NA: 1

Negative (n = 72, 90%)

12F/60M

21 (7–54)

EUR: 38, ADM: 13, AFR:11, SAS:3, ASJ: 2, NA: 5

SS (n = 68)

Positive tier 1 (n = 7, 10.3%)

5F/2M

33 (17–58)

EUR: 4, ADM:1, AFR: 1, NA: 1

Positive tier 2 (n = 2, 2.9%)

2F

32 (28–35)

ASJ: 1, ADM:1

Negative (n = 59, 86.8%)

28F/31M

25 (7–64)

EUR: 31, ADM: 8, AFR:5, ASJ:5, EAS:4, SAS:4, NAM:1, NA: 1

SFT (n = 12)

Positive tier 1 (n = 2, 16.6%)

2M

56 (45–67)

ASJ: 1, ADM: 1

Positive tier 2 (n = 3, 25%)

2F/1M

71 (61–75)

ASJ: 2, EUR: 1

Negative (n = 7, 58.4%)

4F/3M

59 (40–71)

EUR: 4, EAS: 2, ADM:1

ARMS (n = 38)

Positive tier 1 (n = 2, 5.3%)

2M

39 (29–50)

ASJ: 1, ADM: 1,

Positive tier 2 (n = 3, 7.9%)

3F

11 (7–62)

ASJ: 2, EUR: 1

Negative (n = 33, 86.8%)

20F/13M

12 (1–27)

EUR: 14, ADM: 6, ASJ:5, AFR: 3, EAS: 3, NAM: 1, NA: 1

EHE (n = 19)

Positive tier 1 (n = 2, 10.5%)

2M

58.5 (58–59)

ASJ: 1, EUR: 1

Positive tier 2 (n = 2, 10.5%)

1F/1M

42 (28–56)

ASJ: 2

Negative (n = 15, 79%)

8F/7M

48 (9–61)

EUR: 5, ASJ: 2, EAS: 2, ADM: 1, NA: 5

IMT/EIMS (n = 10)

Positive tier 1 (n = 1, 10%)

1M

44

ADM: 1

Positive tier 2 (n = 1, 10%)

1F

28

ASJ: 1

Negative (n = 8, 80%)

5F/3M

15 (0.5–68)

EUR: 4, ASJ: 1, ADM: 1, AFR: 1, SAS: 1

MLPS (n = 26)

Positive tier 1 (n = 1, 3.8%)

1M

36

ADM: 1

Positive tier 2 (n = 1, 3.8%)

1F

32

ASJ: 1

Negative (n = 24, 92.4%)

10F/14M

41 (13–69)

EUR: 10, ADM: 6, ASJ: 4, AFR: 1, NA: 3

LGFMS (n = 11)

Positive tier 1 (n = 1, 9%)

1M

37

EUR: 1

Negative (n = 10, 91%)

3F/7M

26.5 (18–61)

EUR: 7, ASJ: 1, AFR: 1, ADM: 1

BCOR-AS (n = 9)

Positive tier 2 (n = 1, 11%)

1F

61

NA: 1

Negative (n = 8, 89%)

1F/7M

14 (1–20)

ASJ: 3, EUR: 1, AFR: 1, ADM: 1, NA: 2

DFSP (n = 10)

Positive tier 2 (n = 1, 10%)

1F

17

ASJ: 1

Negative (n = 9, 91%)

5F/4M

49 (14–60)

AFR: 3, EUR: 2, ADM: 2, SAS: 1, NA: 1

CCS (n = 15)

Positive tier 2 (n = 1, 7.1%)

1M

19

ASJ: 1

Negative (n = 14, 92.9%)

5F/9M

30.5 (8–71)

EUR: 7, SAS: 2, ADM: 2, EAS: 1, AFR: 1, ASJ: 1

CIC-RS (n = 15)

Positive tier 1 (n = 1, 6.7%)

1F

29

EUR: 1

Negative (n = 14, 93.3%)

6F/8M

34 (3–70)

EUR: 5, ADM: 5, ASJ: 2, AFR: 1, NA: 1

SEF (n = 10)

Negative (n = 10, 100%)

6F/4M

31 (16–66)

EUR: 6, ADM: 2, AFR: 1

ASPS (n = 13)

Negative (n = 13, 100%)

6F/7M

24 (8–38)

EUR: 6, ADM: 3, EAS: 2, AFR: 2

  1. ES Ewing sarcoma, DSRCT desmoplastic small round cell tumor, SS synovial sarcoma, SFT solitary fibrous tumor, ARMS alveolar rhabdomyosarcoma, EHE epithelioid hemangioendothelioma, IMT/EIMS Inflammatory myofibroblastic tumor/Epithelioid inflammatory myofibroblastic sarcoma, MLPS myxoid liposarcoma, LGFMS low grade fibromyxoid sarcoma, DFSP dermatofibrosarcoma protuberans, CCS clear cell sarcoma, RS rearranged sarcoma, AS altered sarcoma, SEF sclerosing epithelioid fibrosarcoma, ASPS alveolar soft part sarcoma, P/LP pathogenic/likely pathogenic, M male, F female, EUR European (excluding Ashkenazi Jewish), ASJ Ashkenazi Jewish European, AFR African, EAS East Asian, SAS South Asian, NAM Native American, ADM Admixed/others, NA not available.
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