Table 1 Number of carriers of P/LP germline variants according to age and living country region.

From: Detection of germline variants in Brazilian breast cancer patients using multigene panel testing

Patients with a positive finding: n (%)

 

Total cohort 1663 (100%)

BRCA1 97 (5.8%)

BRCA2 72 (4.3%)

BRCA1/2 167 (10.0%)

TP53 37 (2.2%)

TP53 R337H 26 (1.6%)

High-penetrant BC genes 223 (13.4%)

Moderate- penetrant BC genes 69 (4.1%)

Multigene panel 335 (20.1%)

Age at BC diagnosis or age at testing

 ≤ 35 years

481

45 (9.3)

22 (4.6)

66 (13.7)

16 (3.3)

7 (1.4)

86 (17.9)

23 (4.8)

124 (25.8)

 ≤ 50 years

1289

88 (6.8)

57 (4.4)

143 (11.1)

33 (2.6)

22 (1.7)

192 (14.9)

56 (4.3)

286 (22.2)

 ≤ 65 years

1593

96 (6.0)

69 (4.3)

163 (10.2)

37 (2.3)

26 (1.6)

219 (13.7)

65 (4.1)

326 (20.5)

Mean, y (SD)

42.9 (11.2)

38 (9.2)

42.1 (10.6)

39.8 (10)

39.2 (10.5)

42.2 (10.9)

39.9 (9.9)

42.6 (12.1)

40.6 (10.6)

Median, y(min–max)

41 (12–87)

36 (23–66)

40 (21–76)

38 (21–76)

38 (21–65)

40.5 (23–65)

39 (21–76)

39 (24–87)

39 (21–87)

Regions of Brazil

Southeast

863

54 (6.3)

44 (5.1)

96 (11.1)

22 (2.5)

15 (1.7)

130 (15.1)

37 (4.3)

190 (22.0)

South

293

15 (5.1)

12 (4.1)

27 (9.2)

10 (3.4)

8 (2.7)

40 (13.6)

11 (3.7)

60 (20.5)

North

26

0 (0.0)

0 (0.0)

0 (0.0)

0 (0.0)

0 (0.0)

0 (0.0)

3 (11.5)

3 (11.5)

Northeast

283

9 (3.2)

7 (2.5)

16 (5.6)

2 (0.7)

1 (0.3)

21 (7.4)

11 (3.9)

40 (14.1)

Central-west

198

19 (9.6)

9 (4.5)

28 (14.1)

3 (1.5)

2 (1.0)

32 (16.2)

7 (3.5)

42 (21.2)

  1. High-penetrant genes: BRCA1, BRCA2, CDH1, NF1, PALB2, PTEN, STK11 and TP53. Moderate-penetrant genes: ATM, BARD1, BRIP1, CHEK2, RAD51C and RAD51D. Positive findings: carriers of likely pathogenic and pathogenic variants.
  2. BC breast cancer, SD standard deviation, y years.