Table 3 PGVs found in patients with full genes screened for germline variants, distributed by clinical subgroup and PAM50 molecular subtype
Gene | Patients testeda | Patients with PGVs within tested | ER + /HER2 − (LN − & LN +) | HER2 + (ER − & ER +) | TNBC | Not available | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
All | Luminal A | Luminal B | Other PAM50 subtypes | All | HER2-enriched | Other PAM50 subtypes | All | Basal | Other PAM50 subtypes | Â | |||
BRCA1 | 873 (97.0%) | 43/873 (4.9%) | 8/538 (1.5%) | 3/346 (0.9%) | 3/146 (2.1%) | 2/46 (4.3%) | 5/127 (3.9%) | 1/52 (1.9%) | 4/75 (5.3%) | 26/156 (16.7%) | 25/139 (18%) | 1/17 (5.9%) | 4/52 (7.7%) |
BRCA2 | 871 (96.8%) | 36/871 (4.1%) | 23/539 (4.3%) | 7/345 (2%) | 12/149 (8.1%) | 4/45 (8.9%) | 3/126 (2.4%) | 1/52 (1.9%) | 2/74 (2.7%) | 9/154 (5.8%) | 8/137 (5.8%) | 1/17 (5.9%) | 1/52 (1.9%) |
TP53 | 367 (40.8%) | 3/367 (0.8%) | 1/202 (0.5%) | 1/122 (0.8%) | 0/56 | 0/24 | 1/67 (1.5%) | 1/29 (3.4%) | 0/38 | 0/83 | 0/79 | 0/4 | 1/15 (6.7%) |
PALB2 | 305 (33.9%) | 4/305 (1.3%) | 3/171 (1.8%) | 1/105 (1%) | 2/45 (4.4%) | 0/21 | 0/51 | 0/20 | 0/31 | 1/73 (1.4%) | 1/68 (1.5%) | 0/5 | 0/10 |
PTEN | 283 (31.4%) | 0/283 | 0/156 | 0/91 | 0/49 | 0/16 | 0/51 | 0/25 | 0/26 | 0/63 | 0/60 | 0/3 | 0/13 |
CDH1 | 280 (31.1%) | 0/280 | 0/154 | 0/89 | 0/48 | 0/17 | 0/50 | 0/25 | 0/25 | 0/63 | 0/60 | 0/3 | 0/13 |
RAD51C | 222 (24.7%) | 1/222 (0.5%) | 0/128 | 0/78 | 0/36 | 0/14 | 1/34 (2.9%) | 1/16 (6.2%) | 0/18 | 0/52 | 0/49 | 0/3 | 0/8 |
RAD51D | 222 (24.7%) | 0/222 | 0/128 | 0/78 | 0/36 | 0/14 | 0/34 | 0/16 | 0/18 | 0/52 | 0/49 | 0/3 | 0/8 |
CHEK2 | 186 (20.7%) | 33/186 (17.7%) | 23/104 (22.1%) | 15/62 (24.2%) | 6/29 (20.7%) | 2/13 (15.4%) | 6/36 (16.7%) | 0/13 | 6/23 (26.1%) | 1/36 (2.8%) | 1/34 (2.9%) | 0/2 | 3/10 (30%) |
ATM | 94 (10.4%) | 4/94 (4.3%) | 3/51 (5.9%) | 1/33 (3%) | 2/10 (20%) | 0/8 | 0/17 | 0/4 | 0/13 | 1/24 (4.2%) | 0/22 | 1/2 (50%) | 0/2 |
BARD1 | 10 (1.1%) | 1/10 (10.0%) | 1/7 (14.3%) | 0/3 | 0/1 | 1/3 (33.3%) | 0/0 | 0/0 | 0/0 | 0/3 | 0/3 | 0/0 | 0/0 |
All genes | 900 | 124/900 (13.8%) | 62/560 (11.1%) | 28/359 (7.8%) | 25/155 (16.1%) | 9/46 (19.6%) | 16/128 (12.5%) | 4/53 (7.5%) | 12/75 (16.0%) | 37/160 (23.1%) | 34/143 (23.8%) | 3/17 (17.6%) | 9/52 (17.3%) |