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. 2021 Oct 12;19(2):253–262. doi: 10.20892/j.issn.2095-3941.2021.0358

Table 4.

Comparison of risk-related clinical characteristics between patients with germline pathogenic variant and noncarriers

Gene All cases Age at diagnosis
Early-onset breast cancer (≤ 40 years)
Premenopausal breast cancer
Bilateral breast cancer
Positive family history of breast cancer
Positive family history of any cancer
Mean ± SD P No. of patients (%) P No. of patients (%) P No. of patients (%) P No. of patients (%) P No. of patients (%) P
Non-carriers 7,413 51.4 ± 11.6 Ref 1,276 (17.2) Ref 3,839 (51.8) Ref 184 (2.5) Ref 626 (8.4) Ref 2,323 (31.3) Ref
TP53 30 41.8 ± 12.1 5.00 × 10−6 13 (43.3) 1.61 × 10−4 26 (86.7) 1.36 × 10−4 5 (16.7) 8.51 × 10−4 4 (13.3) 0.32 16 (53.3) 9.60 × 10−3
BRCA2 279 47.8 ± 10.8 2.95 × 10−7 75 (26.9) 3.10 × 10−5 163 (58.4) 0.03 30 (10.8) 1.64 × 10−16 85 (30.5) 1.13 × 10−35 143 (51.3) 2.60 × 10−12
BRCA1 141 44.7 ± 9.3 1.01 × 10−11 50 (35.5) 1.68 × 10−8 108 (76.6) 5.15 × 10−9 10 (7.1) 1.58 × 10−3 55 (39.0) 3.84 × 10−36 89 (63.1) 1.06 × 10−15
PALB2 52 47.6 ± 11.4 0.02 13 (25.0) 0.14 32 (61.5) 0.16 1 (1.9) 1.00 9 (17.3) 0.04 31 (59.6) 1.20 × 10−5
BARD1 14 50.4 ± 9.3 0.73 2 (14.3) 1.00 6 (42.9) 0.50 0 (0.0) 1.00 2 (14.3) 0.76 9 (64.3) 0.02
CHEK2 24 50.3 ± 8.4 0.64 3 (12.5) 0.73 16 (66.7) 0.15 1 (4.2) 0.45 4 (16.7) 0.28 13 (54.2) 0.03
RAD51D 28 46.3 ± 11.7 0.02 10 (35.7) 0.02 19 (67.9) 0.09 0 (0.0) 1.00 1 (3.6) 0.56 12 (42.9) 0.19
ATM 29 49.8 ± 13.6 0.45 8 (27.6) 0.14 18 (62.1) 0.27 2 (6.9) 0.16 6 (20.7) 0.04 18 (62.1) 3.75 × 10−4
PTEN 5 47.6 ± 7.0 0.46 0 (0.0) 0.60 3 (60.0) 1.00 2 (40.0) 0.01 1 (20.0) 0.36 1 (20.0) 1.00
CDH1 1 46.0 0.64 0 (0.0) 1.00 1 (100.0) 1.00 0 (0.0) 1.00 0 (0.0) 1.00 0 (0.0) 1.00
STK11 1 46.0 0.64 0 (0.0) 1.00 1 (100.0) 1.00 0 (0.0) 1.00 0 (0.0) 1.00 0 (0.0) 1.00
NBN 6 43.8 ± 4.3 0.11 1 (16.7) 1.00 6 (100.0) 0.03 0 (0.0) 1.00 0 (0.0) 1.00 2 (33.3) 1.00
RAD50 19 48.6 ± 14.2 0.29 6 (31.6) 0.18 10 (52.6) 1.00 0 (0.0) 1.00 2 (10.5) 1.00 4 (21.1) 0.33
BRIP1 9 45.9 ± 9.3 0.15 4 (44.4) 0.09 7 (77.8) 0.18 1 (11.1) 0.20 1 (11.1) 0.55 3 (33.3) 1.00
RAD51C 2 54.0 ± 8.5 0.75 0 (0.0) 1.00 0 (0.0) 0.23 0 (0.0) 1.00 0 (0.0) 1.00 1 (50.0) 0.53
In Total 8,053# 51.1 ± 11.6 1,461 (18.1) 4,263 (52.9) 236 (2.9) 796 (9.9) 2,665 (33.1)

#Fourteen patients carrying pathogenic variants in 2 different genes were excluded from clinical characteristics analysis. SD, standard deviation; BBC, bilateral breast cancer.