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Table 2 “Screen positive” copy number variations (CNVs) in 13 cancer cases and two controls mapped to reported gains and losses in the Integrated Genomic Analysis of Ovarian Cancer (IGAOC) study [11]

From: Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: implications for cancer screening

Subject number

Age (years)

Study group

FIGO Stage

Percept™ call for aneuploidy

Detected CNVs ≥ 15 Mb mapped according to IGAOCa

 

Highly specific

Moderately specific

Non-specific

1

76

Early stage cancer

2C

No call

Chr 3q gain

Chr 12p gain

Chr 20q terminal gain

Chr 5q segmental loss

Chr 8p loss

Chr 9p loss

 

Chr 5p gain

Chr 7q segmental loss

2

65

Early stage cancer

2C

No call

Chr 3q terminal gain

Chr 20 gain

Chr 4q loss

Chr 7p loss

Chr 13q segmental loss

Chr 15q segmental loss

Chr 6p gain

Chr 2q interstitial gain

Chr 18q segmental gain

3

48

Early stage cancer

1C

Low risk

Chr 12p terminal gain

  

4

71

Early stage cancer

2C

Low risk

Chr 3q interstitial gain

Chr 8q gain

  

5

38

Early stage cancer

1C

Low risk

Chr 8q terminal gain

 

Chr 3p terminal gain

6

47

Early stage cancer

2A

Low risk

Chr 8q terminal gain

  

7

54

Advanced stage cancer

4

No call

Chr 3q terminal gain

Chr 8 gain

Chr 5q loss

Chr 13 loss

Chr 15 loss

Chr 17 loss

Chr 18 loss

Chr 22 loss

Chr 14 loss

Chr 5p gain

Chr 9p gain

8

57

Advanced stage cancer

3B

Low risk

Chr 8q terminal gain

Chr 8p terminal loss

Chr 1q interstitial gain

Chr 6p gain

Chr 1p interstitial gain

Chr 11q segmental gain

9

60

Advanced stage cancer

3A1

Low risk

Chr 20 gain

  

10

83

Advanced stage cancer

3A

Low risk

  

Chr 11q interstitial gain

11

33

Advanced stage cancer

3C

No call

Chr 8q terminal gain

Chr 12p terminal gain

Chr 4q segmental loss

Chr 5q interstitial loss

Chr 6q terminal loss

Chr 8p loss

Chr 9p terminal loss

Chr 13 segmental loss

Chr 15 segmental loss

Chr 17q segmental loss

Chr 22 loss

Chr 6p segmental gains

Chr 7q segmental gains

Chr 1p segmental gains

Chr 2 segmental gains

Chr 5p gain

Chr 11q interstitial gain

Chr 18q segmental gain

Chr 1p segmental loss

Chr 10p loss

Chr 11q terminal loss

Chr 21 loss

12

58

Advanced stage cancer

3C

No call

Chr 3q gain

Chr 4p loss

Chr 9q loss

Chr 13 loss

Chr 1q gain

Chr 6p gain

Chr 7q terminal gain

Chr 11p loss

Chr 5p loss

Chr 7p terminal loss

Chr 10p gain

Chr 18 gain

13

66

Advanced stage cancer

3C

Monosomy 18

Chr 20q gain

Chr 8q terminal segmental gain

  

14

44

Benign control

NA

Low risk

Chr 20q segmental gain

  

15

53

Benign control

NA

Low risk

Chr 20q gain

  
  1. aCNVs are categorized according to IGAOC analysis [8]. The IGAOC found 8 significantly gained chromosome arms (5 present in > 50 % of tumor samples), and 22 significantly deleted chromosome arms (18 present in > 50 %). We used the following definitions: highly specific CNV, statistically significant gain or loss (q value < 0.25) with frequency in > 50 %; Moderately specific CNV, statistically significant gain or loss (q value < 0.25) with frequency in < 50 %; non-specific CNV, gain or loss with q value > 0.25