Table 1 DNA-BONus study population

From: BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study

 

Number of patients included

Mean age (years)

Current national criteria for BRCA1/2 testing a

Manchester scores at inclusion

   

Fulfilled

Not fulfilled

Number of patients with combined Manchester score ≥15, N (%)

Number of patients with combined Manchester score <15, N (%)

   

At risk personal cancer history only (N)

Positive family history only (N)

Both at risk personal history and family history (N)

Total number of patients fulfilling criteria, N (%)

Number of patients outside current criteria for BRCA1/2 testing, a N (%)

  

Breast cancer

 Total

405

56.9 Range: 23–89

103

48

51

202 (49.9%)

203 (50.1%)

41 (10.1%)

364 (89.9%)

 Pathogenic BRCA1/2 variant identified, N (%)

7 (1.7%)

50.6 Range: 32–76

3

1

2

6 (85.7%)

1b (14.3%)

2 (28.6%)

5 (71.4%)

Ovarian cancer

 Total

83

60.5 Range: 24–88

49

4

17

70 (84.3%)

13 (15.7%)

26 (31.3%)

57 (68.7%)

 Pathogenic BRCA1/2 variant identified, N (%)

19 (22.3%)

56.5 Range: 44–72

10

0

8

18 (94.7%)

1b (5.3%)

11 (57.9%)

8 (42.1%)

  1. Positive family history: first-degree relative with breast cancer before age 50 years or ovarian cancer at any age, two or more breast cancer cases or both breast and ovarian cancer on the same side of the family, male relative with breast cancer or known BRCA1/2 mutation in the family.
  2. aCriteria for clinical BRCA1/2 founder mutation testing of patients with breast or ovarian cancer, as outlined by the Norwegian Health Authorities: at risk personal history; breast cancer before age 50 years, ovarian cancer before age 70 years, bilateral breast cancer, both breast and ovarian cancer or male breast cancer at any age.
  3. bThese numbers represent two patients who apparently did not fulfill current national test criteria upon inclusion. They were reclassified after genetic counselling, and in retrospect, both were eligible for diagnostic BRCA1/2 testing according to the test criteria.