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Table 4 Frequency of Variants of Uncertain Significance (VUS) among tested individuals

From: Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations

Individuals

% VUS rate

% VUS rate

BRCA1 and BRCA2

Other high-risk genes

Genes with moderate risk

Genes with low/unknown risk

Total individuals

34.8% (417/1197)

3.0% (36/1197)

15.5% (185/1197)

13.0% (156/1197)

10.1% (121/1197)

 Greek

35.5% (224/631)

2.2% (14/631)

16.2% (102/631)

13.8% (87/631)

10.9% (69/631)

 Romanian

30.4% (124/408)

2.5% (10/408)

13.2% (54/408)

11.3% (46/408)

9.3% (38/408)

 Turkish

43.7% (69/158)

7.6% (12/158)

18.4% (29/158)

14.6% (23/158)

8.9% (14/158)

Affected individuals

34.8% (323/929)

2.8% (26/929)

15.6% (145/929)

12.3% (114/929)

10.3% (96/929)

 Breast cancer

34.9% (268/768)

2.6% (20/768)

15.2% (117/768)

10.7% (82/768)

6.4% (49/768)

 Colorectal cancer

36.8% (25/68)

2.9% (2/68)

13.2% (9/68)

8.8% (6/68)

11.8% (8/68)

 Ovarian cancer

31.0% (13/42)

4.8% (2/42)

16.7% (7/42)

4.8% (2/42)

4.8% (2/42)

 Other cancers

41.0% (25/61)

3.3% (2/61)

24.6% (15/61)

8.2% (5/61)

4.9% (3/61)

Unaffected individuals

39.0% (55/141)

2.8% (4/141)

16.3% (23/141)

19.1% (27/141)

9.2% (13/141)

 FH of Breast cancer

41.7% (43/103)

2.9% (3/103)

15.5% (16/103)

22.3% (23/103)

9.7% (10/103)

 FH of Colorectal cancer

31.3% (10/32)

3.1% (1/32)

15.6% (5/32)

12.5% (4/32)

6.3% (2/32)

 FH of Ovarian cancer

36.7% (11/30)

0.0% (0/30)

10.0% (3/30)

20.0% (6/30)

10.0% (3/30)

Individuals with no information

30.7% (39/127)

4.7% (6/127)

13.4% (17/127)

11.8% (15/127)

13.4% (17/127)