Table 3 Frequency of Pathogenic and Likely Pathogenic variants among tested individuals
Individuals | Positive yield % (positive individuals/total individuals) | Positive yield in gene categories % (positive individuals/total individuals) | |||
|---|---|---|---|---|---|
BRCA1 and BRCA2 | Other high-risk genes | Genes with moderate risk | Genes with low/unknown risk | ||
Total individuals | 22.1% (264/1197) | 10.5% (126/1197) | 5.2% (62/1197) | 4.8% (58/1197) | 3.3% (44/1197) |
 Greek | 20.4% (129/631) | 8.2% (52/631) | 5.4% (34/631) | 5.2% (33/631) | 3.8% (24/631) |
 Romanian | 27.0% (110/408) | 14.2% (58/408) | 5.4% (22/408) | 5.9% (24/408) | 3.7% (15/408) |
 Turkish | 15.8% (25/158) | 10.1% (16/158) | 4.4% (7/158) | 0.6% (1/158) | 1.9% (3/158) |
Affected individuals | 24.2% (225/929) | 11.2% (104/929) | 5.9% (55/929) | 5.8% (54/929) | 3.9% (36/929) |
 Breast cancer | 24.7% (190/768) | 12.6% (97/768) | 3.9% (30/768) | 6.4% (49/768) | 3.5% (27/768) |
 Colorectal cancer | 27.9% (19/68) | 2.9% (2/68) | 25.0% (17/68) | 2.9% (2/68) | 7.4% (5/68) |
 Ovarian cancer | 19.0% (8/42) | 14.3% (6/42) | 2.4% (1/42) | 2.4% (1/42) | 0.0% (0/42) |
 Other cancers | 21.3% (13/61) | 4.9% (3/61) | 8.2% (5/61) | 3.3% (2/61) | 3.3% (2/61) |
Unaffected individuals | 14.9% (21/141) | 7.1% (10/141) | 3.5% (5/141) | 2.8% (4/141) | 2.1% (3/141) |
 FH of Breast cancer | 14.6% (15/103) | 8.7% (9/103) | 1.0% (1/103) | 1.9% (2/103) | 2.9% (3/103) |
 FH of Colorectal cancer | 21.9% (7/32) | 6.3% (2/32) | 9.4% (3/32) | 6.3% (2/32) | 0.0% (0/32) |
 FH of Ovarian cancer | 23.3% (7/30) | 13.3% (4/30) | 0.0% (0/30) | 10.0% (3/30) | 3.3% (1/30) |
Individuals with no information | 14.2% (18/127) | 9.4% (12/127) | 3.1% (4/127) | 0.8% (1/127) | 0.8% (1/127) |