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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.