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Table 6 Frequency of pathogenic variants in ER-positive DCIS by age

From: Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years

Gene Frequency under 40 years
N = 45
Frequency under 40 years with FH N = 24 Frequency under 50 years N = 397 Frequency under 50 years with FH
N = 197
BRCA2 8 (17.8%) 7 (29.2%) 16 (4%) 14 (7.1%)
CHEK2 2 (4.4%) 1 (4.2%) 12 (3%) 7 (3.6%)
PALB2 1 (2.2%) 1 (4.2%) 5 (1.3%) 4 (2%)
BRCA1 1 (2.2%) 0 (0%) 1 (0.3%) 0 (0%)
TP53 1 (2.2%) 1 (4.2%) 2 (0.5%) 2 (1%)
Total (% of ER+ cases) 13 variants (29%) in 11 women (24%)* 10 variants (42%) in 9 women (38%) 36 variants (9%) in 32 women (8%) 27 variants (14%) in 24 women (12%)
  1. FH family history of breast cancer in any relative
  2. *Some individuals carry 2 variants