Skip to main content

Table 2 Interpretation of two genetics reports by breast cancer specialists

From: Understanding of BRCA VUS genetic results by breast cancer specialists

 

Total

Medical oncologist

Clinical oncologist

Surgeon

No. (%)

No. (%)

No. (%)

No. (%)

155 (100 %)

63 (40.7 %)

54 (34.8 %)

38 (24.5 %)

Interpretation of report 1

    

 No pathogenic mutation

0 (0 %)

0 (0 %)

0 (0 %)

0 (0 %)

 A gene mutation found but unknown if causing her breast cancer

130 (83.9 %)

57 (90.5 %)

45 (83.3 %)

28 (73.7 %)

 A pathogenic BRCA2 gene mutation

0 (0 %)

0 (0 %)

0 (0 %)

0 (0 %)

 Don’t know

21 (13.6 %)

5 (7.9 %)

8 (14.8 %)

8 (21.1 %)

 Other

4 (2.6 %)

1 (1.6 %)

1 (1.9 %)

2 (5.3 %)

Communication to patient report 1a

    

 Reassure the patient that there is no hereditary cause for her breast cancer.

1 (0.6 %)

0 (0 %)

1 (1.9 %)

0 (0 %)

 Explain there may be a hereditary cause and discuss further tests.

95 (61.2 %)

45 (71.4 %)

29 (53.7 %)

21 (55.3 %)

 Explain BRCA2 mutation contributed to causing her breast cancer.

0 (0 %)

0 (0 %)

0 (0 %)

0 (0 %)

 Explain she has a BRCA2 mutation discuss risk reducing options.

0 (0 %)

0 (0 %)

0 (0 %)

0 (0 %)

 Refer patients to a genetics consultant.

81 (52.2 %)

36 (57.1 %)

30 (55.6 %)

15 (39.5 %)

 Don't know.

7 (4.5 %)

0 (0 %)

3 (5.6 %)

4 (10.5 %)

 Other (free text)

11 (7.1 %)

4 (6.3 %)

2 (3.7 %)

5 (13.2 %)

Interpretation of report 2

    

 No pathogenic mutation

35 (22.6 %)

18 (28.6 %)

10 (18.5 %)

7 (18.4 %)

 A gene mutation found but unknown if causing her breast cancer

71 (45.8 %)

31 (49.2 %)

23 (42.6 %)

17 (44.7 %)

 A pathogenic BRCA2 gene mutation

0 (0 %)

0 (0 %)

0 (0 %)

0 (0 %)

 Don't Know

49 (31.6 %)

14 (22.2 %)

21 (38.9 %)

14 (36.8 %)

Communication to patient report 2a

    

 Reassure the patient that there is no hereditary cause for her breast cancer.

10 (6.5 %)

2 (3.2 %)

2 (3.7 %)

6 (15.8 %)

 Explain there may be a hereditary cause and discuss further tests.

13 (8.4 %)

7 (11.1 %)

3 (5.6 %)

3 (7.9 %)

 Explain BRCA2 mutation contributed to causing her breast cancer.

1 (0.6 %)

0 (0 %)

1 (1.9 %)

0 (0 %)

 Explain she has a BRCA2 mutation discuss risk reducing options.

0 (0 %)

0 (0 %)

0 (0 %)

0 (0 %)

 Refer patients to a genetics consultant.

68 (43.8 %)

24 (38.1 %)

24 (44.4 %)

14 (36.8 %)

 Don't know/no answer

58 (37.4 %)

25 (39.7 %)

22 (40.7 %)

11 (28.9 %)

 Other (free text)

12 (7.7 %)

5 (7.9 %)

2 (3.7 %)

5 (13.2 %)

  1. aNumbers do not add to 100 % as multiple responses allowed