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Table 3 Frequency of Pathogenic and Likely Pathogenic variants among tested individuals

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

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)