Table 1 DNA test results of mutation scanning of the BRCA1 and BRCA2 genes by five Dutch DNA diagnostic laboratories of the samples received in 2001

From: Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines

  

BRCA1

BRCA2

Laboratory a

Number of analysed families

Total (%)b

Pathogenic (%)b

UV (%)b

Total (%)b

Pathogenic (%)b

UV (%)b

1

144

19 (13)

10 (7)

9 (6)

30 (21)

6 (4)

24 (17)

2

117

23 (20)

10 (9)

13 (11)

18 (15)

5 (4)

13 (11)

3

104

9 (9)

6 (6)

3 (3)

16 (15)

6 (6)

10 (10)

4

161

15 (9)

12 (7)

3 (2)

22 (14)

6 (4)

16 (10)

5

180

16 (9)

14 (8)

2 (1)

2 (1)

2 (1)

0c

  1. aData of three laboratories are not included because the data were not complete or received after a second reminder, by which time, new information about eight UVs was published.
  2. bRelative to the total number of families.
  3. cAt the time of the survey, the BRCA2 test-results on the samples of 2001 from this laboratory included only the Protein Truncation Test for the large central exons 10 and 11.
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