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

Table 5 Frequency of pathogenic variants in ER-negative DCIS by age

Gene	Frequency under 40 years N = 26	Frequency under 40 years with FH N = 9	Frequency under 50 years N = 89	Frequency under 50 years with FH N = 38
BRCA2	0 (0%)	0 (0%)	0 (0%)	0 (0%)
CHEK2	1 (3.8%)	0 (0%)	3 (3.3%)	2 (5.2%)
PALB2	0 (0%)	0 (0%)	0 (0%)	0 (0%)
BRCA1	0 (0%)	0 (0%)	3 (3.3%)	3 (7.9%)
TP53	1 (3.8%)	1 (11%)	2 (2.2%)	1 (2.6%)
Total (% of ER− cases)	2 (8%)	1 (11%)	8 (9%)	6 (16%)

ISSN: 1465-542X