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Table 1 Tumor characteristics of BRCA1-related, Luminal-J, basal-like and Luminal-H breast tumors.

From: BRCA1-mutated and basal-like breast cancers have similar aCGH profiles and a high incidence of protein truncating TP53 mutations

NKI ID deleterious TP53 mutation by prediction complex/truncatingTP53 mutation hotspot mutation TP53 IHC ER IHC PR IHC HER2 IHC CK5/6IHC breast cancer subtype/BRCA1 mutation Age at diagnosis
BRCA1-mutated breast tumors          
B107 G266E 0 1 0 0 0 0 NA c.1319delT 41
B109 R213X, H214Y 1 1 0 0 0 0 NA c.IVS21-36del510 30
B116 Y163C 0 1 1 0 0 0 NA c.185delAG 49
B118 NA NA NA 0 0 0 0 NA c.4416_4417delTTinsG 34
B119 NA NA NA 0 0 0 0 NA c.4416_4417delTTinsG 34
B122 239 insT 1 0 0 0 0 0 NA c.4446C > T 45
B124 NA NA NA 1 0 0 0 NA c.3875del4 61
B125 NA NA NA 0 0 0 0 NA c.2804delAA 35
B126 del 255 1 0 1 0 0 0 NA c.IVS21-36del510 40
B127 T55I 0 0 1 0 0 0 NA c.5382insC 39
B135 wild type 0 0 1 0 0 0 NA c.2312del5 41
B137 224 splice G > A 1 0 0 0 0 0 NA c.IVS12-1632del3835 32
B141 wild type 0 0 0 0 0 0 NA c.IVS21-36del510 39
B145 110 delC, Q100X 1 0 0 0 0 0 NA c.185delAG 33
B146 145 delG, Q104X, P98S 1 0 0 0 0 0 NA c.185delAG 33
B149 R273H 0 1 1 0 0 0 NA c.IVS20+1G > A 31
B150 V216 M, P223 S, R290C 0 1 0 0 0 0 NA c.IVS21-36del510 41
B152 R175H 0 1 1 0 0 0 NA c.IVS13+4123ins6081 47
B153 del 155-156 1 0 1 0 0 0 NA c.185delAG 48
B156 R248W, R280K, V218I 0 1 1 0 0 0 NA c.5382insC 47
B158 R282G, E326K 0 1 1 0 0 0 NA c.IVS21-36del510 27
B160 167 insA 1 0 0 0 0 0 NA c.IVS20+1G > A 61
B161 R213X, R282W, P151R 1 1 1 0 0 0 NA c.IVS13+4123ins6081 30
B162 NA NA NA 0 0 0 0 NA c.IVS20+1G > A 27
B164 258 delG 1 0 0 0 0 0 NA c.del exons 1A-7 31
B165 NA NA NA 1 0 0 0 NA c.IVS12-1632del3835 33
B171 R306X 1 0 0 0 0 1 NA c.IVS2-9C > G 33
Luminal-J breast tumors          
C002 R248W, R110C, T55I 0 1 0 0 0 1 0 Luminal A 45
C010 NA NA NA 0 1 1 0 0 Luminal A 40
C017 K305X 1 0 0 1 1 0 0 Luminal B 36
C020 wild type 0 0 1 0 0 0 1 Luminal A 34
C022 NA NA NA 0 1 0 0 0 Luminal B 51
C025 P177L 0 1 0 1 1 0 0 Luminal A 50
C027 NA NA NA 0 1 1 1 0 Luminal A 45
C028 wild type 0 0 0 1 1 0 0 Luminal B 41
C030 wild type 0 0 0 1 0 0 0 Luminal B 38
C034 wild type 0 0 0 1 1 0 0 Luminal A 47
C036 wild type 0 0 0 1 1 0 0 Luminal A 40
C037 NA NA NA 0 1 1 0 0 Luminal B 49
C042 P190L 0 0 0 1 1 0 0 Luminal B 42
C044 wild type 0 0 0 1 0 0 0 Luminal B 45
C052 wild type 0 0 0 1 1 0 0 Luminal A 45
C057 P98L 0 0 0 0 0 0 0 Luminal B 51
C060 H179R, T125M 0 1 1 1 1 0 0 Luminal B 47
Basal-like breast tumors          
131 239_240delCA 1 0 1 0 0 0 1 Basal-like 39
135 C242Y 0 1 1 0 0 0 1 Basal-like 45
164 W53X 1 0 0 0 0 0 1 Basal-like 50
184 183_184insC 1 0 0 0 0 0 1 Basal-like 44
215 110delC 1 0 0 0 0 0 1 Basal-like 49
228 IVS5-2 A > C (splice) 1 0 0 0 0 0 0 Basal-like 39
230 E221X 1 0 0 0 0 1 0 Basal-like 28
238 V173M 0 1 1 0 0 0 1 Basal-like 42
241 R196X 1 0 0 0 0 0 1 Basal-like 41
268 L252P 0 0 1 0 0 0 1 Basal-like 38
269 N131S 0 0 0 0 1 0 1 Basal-like 38
270 283insGC 1 0 0 0 0 0 1 Basal-like 50
307 218delGTG 1 0 1 0 0 0 1 Basal-like 44
324 I195T 0 1 1 0 0 0 1 Basal-like 46
326 155_156del 1 0 1 0 0 0 1 Basal-like 39
330 201delT 1 0 0 0 0 0 1 Basal-like 26
332 Q286K 0 1 1 0 0 0 1 Basal-like 49
335 R248W 0 1 1 0 0 0 1 Basal-like 48
367 wild type 0 0 1 1 0 1 0 Basal-like 49
377 255_256delTCA 1 0 1 1 1 0 1 Basal-like 52
398 Y220C 0 1 1 0 0 0 1 Basal-like 34
Luminal-H breast tumors          
6 wild type 0 0 0 1 1 0 0 Luminal A 49
107 Q317X 1 0 0 1 1 0 NA Luminal B 38
110 wild type 0 0 0 1 1 0 0 Luminal B 51
145 R273C 0 1 0 0 1 0 0 Luminal B 48
157 (C002)* R248W 0 1 0 0 0 1 0 Luminal A 45
166 wild type 0 0 0 1 0 0 0 Luminal B 43
167 wild type 0 0 0 1 1 1 0 Luminal A 44
176 wild type 0 0 0 0 1 0 0 Luminal A 46
203 wild type 0 0 0 1 1 1 0 Luminal A 49
205 K132R 0 1 0 1 1 0 1 Luminal A 50
214 wild type 0 0 0 1 1 0 0 Luminal A 41
220 wild type 0 0 0 1 1 0 0 Luminal A 42
231 wild type 0 0 0 1 1 NA 0 Luminal A 43
240 (C060)* H179R 0 1 0 1 1 0 0 Luminal B 47
295 wild type 0 0 0 1 1 0 0 Luminal A 48
298 wild type 0 0 1 1 1 0 0 Luminal A 50
302 (C034)* wild type 0 0 0 1 1 0 0 Luminal A 47
305 (C036)* wild type 0 0 0 1 1 0 0 Luminal A 40
312 205delT 1 0 0 1 1 0 0 Luminal B 47
318 R110L, S127C 0 1 0 1 1 0 0 Luminal A 37
322 (C044)* wild type 0 0 0 1 0 0 0 Luminal B 45
329 wild type 0 0 0 1 1 0 0 Luminal B 49
346 wild type 0 0 0 1 1 0 0 Luminal A 49
354 P177R 0 1 1 1 1 0 1 Luminal A 47
356 wild type 0 0 0 1 1 0 0 Luminal A 49
361 wild type 0 0 0 1 1 0 0 Luminal A 42
371 wild type 0 0 1 1 0 0 0 Luminal A 51
378 wild type 0 0 0 1 0 0 0 Luminal B 52
389 (C057)* wild type 0 0 0 1 0 0 0 Luminal B 51
391 wild type 0 0 0 1 0 0 0 Luminal A 51
393 wild type 0 0 0 1 1 0 0 Luminal B 51
  1. TP53 mutations Bold: predicted truncating TP53 mutation (frameshift, splice, nonsense and in-frame insertions or deletions), plain text: hotspot mutations according to Walker et al. Italics, missense TP53 mutations predicted deleterious by the SIFT or EffectGroup3 algorithms. Immunohistochemistry data for TP53, ER, PR, HER2 and CK5/6; BRCA1-mutation; tumor type as determined by expression profiling; age at diagnosis.
  2. *The TP53 gene of the BRCA1-mutated, Luminal-J tumors were sequenced in a different laboratory than the BLBCs and the luminal-H tumors. Of the 6 overlapping tumors between Luminal-H and Luminal-J tumors a discrepancy occurs in 3 tumors: In luminal-H tumor 157 a R248W mutation is found and in corresponding Luminal-J tumor C002 an additional R110C and T55I mutations are found. In luminal-J tumor C057 a P98L mutation is found and corresponding luminal-H tumor 389 no mutations are found. In luminal-H tumor 240 a H179R mutation is detected and in corresponding luminal-J tumor C060 an additional T125 M mutation is found.
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