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Table 2 Characteristics of BRCAm carriers with a diagnosis of tumor in TCGA cohort

From: Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey

Variables

Male BRCAm

carriers (n = 294)

Female BRCAm

carriers (n = 349)

Male non-BRCAm

carriers (n = 4577)

P*

P#

Incidence of BRCA1/2 mutation

 carrier

294 (6.0)

349 (6.6)

–

0.275

–

 non-carrier

4577 (94.0)

4969 (93.4)

   

Race

 white

225 (76.5)

246 (70.5)

3238 (70.7)

0.001

0.316

 Asian

19 (6.5)

21 (6.0)

337 (7.4)

  

 Black/African American

12 (4.1)

46 (13.2)

274 (6.0)

  

 other

0(0.0)

3 (0.9)

9 (0.2)

  

 unknown

38 (12.9)

33 (9.5)

719 (15.7)

  

Age at diagnosis

 < 40

14 (4.8)

27 (7.7)

454 (9.9)

0.15

< 0.001

 40–49

28 (9.5)

42 (12.0)

519 (11.3)

  

 50–59

64 (21.8)

93 (26.6)

1095 (23.9)

  

 60–69

81 (27.6)

91 (26.1)

1388 (30.3)

  

 70–79

81 (27.6)

68 (19.5)

858 (18.7)

  

 ≥ 80

24 (8.2)

26 (7.4)

239 (5.2)

  

 unknown

2 (0.7)

2 (0.6)

24 (0.5)

  

Anatomic site of tumor

 lung

57 (19.4)

36 (10.3)

541 (11.8)

< 0.001

< 0.001

 skin

48 (16.3)

24 (6.9)

228 (5.0)

  

 bladder

46 (15.6)

11 (3.2)

258 (5.6)

  

 stomach

35 (11.9)

14 (4.0)

250 (5.5)

  

 head and neck

25 (8.5)

6 (1.7)

360 (7.9)

  

 colorectum

24 (8.2)

23 (6.6)

288 (6.3)

  

 kidney

14 (4.8)

8 (2.3)

565 (12.3)

  

 prostate

11 (3.7)

–

483 (10.6)

  

 CNS

8 (2.7)

9 (2.6)

452 (9.9)

  

 esophagus

8 (2.7)

1 (0.3)

148 (3.2)

  

 liver

8 (2.7)

4 (1.1)

243 (5.3)

  

 breast

3 (1.0)

54 (15.5)

9 (0.2)

  

 uterus

–

93 (26.6)

–

  

 ovary

–

30 (8.6)

–

  

 cervical

–

27 (7.7)

–

  

 other

7 (2.4)

9 (2.6)

752 (16.4)

  

Histology

 adenocarcinoma

86 (29.3)

144 (41.3)

1355 (29.6)

< 0.001

< 0.001

 melanoma

48 (16.3)

24 (6.9)

229 (5.0)

  

 urothelial carcinoma

46 (15.6)

11 (3.1)

257 (5.6)

  

 squamous cell carcinoma

66 (22.4)

40 (11.5)

755 (16.5)

  

 IBC, NST

3 (1.0)

47 (13.5)

8 (0.2)

  

 serous carcinoma

–

36 (10.3)

–

  

 other

45 (15.3)

47 (13.5)

1973 (43.1)

  

TNM stage

 0

1 (0.3)

1 (0.3)

4 (0.1)

0.001

0.007

 I

55 (18.7)

50 (14.3)

1025 (22.4)

  

 II

86 (29.3)

82 (23.5)

864 (18.9)

  

 III

72 (24.5)

40 (11.5)

823 (18.0)

  

 IV

39 (13.3)

8 (2.3)

507 (11.1)

  

 unknown

41 (13.9)

168 (48.1)

1354 (29.6)

  

BRCA1/2 mutation

 BRCA1 only

81 (27.6)

117 (33.5)

–

0.001

–

 BRCA2 only

193 (65.6)

183 (52.4)

   

 both BRCA1 and BRCA2

20 (6.8)

49 (14.1)

   

Histologic grade

 low

8 (2.7)

18 (5.2)

132 (2.9)

0.309

0.875

 moderate to high

122 (41.5)

170 (48.9)

1774 (38.8)

  

 unknown/unclassified

164 (55.8)

160 (46.0)

2671 (58.4)

  

Mutation count (median)

 all

322 (range, 11–15,832)

379 (range, 7–25,730)

63(range, 1–5865)

–

–

 with BRCA1 mutation only

309 (range, 24–3679)

161 (range, 8–5118)

–

  

 with BRCA2 mutation only

266 (range, 11–6369)

340 (range, 7–12,071)

–

  

 with BRCA1 & BRCA2 mutation

2390 (range, 264–15,832)

8234 (range, 153–25,730)

–

  

Radiotherapy

 no

215 (73.1)

218 (62.4)

2920 (63.8)

< 0.001

0.009

 yes

48 (16.3)

98 (28.1)

1010 (22.1)

  

 unknown

31 (10.6)

33 (9.5)

647 (14.1)

  

Neoadjuvant therapy

 no

290 (98.6)

348 (99.7)

4523 (98.8)

0.274

0.782

 yes

4 (1.4)

1 (0.3)

54 (1.2)

  

Tumor progression

 no

168 (57.1)

258 (73.9)

2865 (62.6)

< 0.001

0.078

 yes

125 (42.5)

90 (25.8)

1707 (37.3)

  

 unknown

1 (0.3)

1 (0.3)

5 (0.1)

  

Overall survival

 alive

172 (58.5)

282 (80.8)

3149 (68.8)

< 0.001

< 0.001

 deceased

121 (41.2)

66 (18.9)

1423 (31.1)

  

 unknown

1 (0.3)

1 (0.3)

5 (0.1)

  
  1. * χ2 test comparing proportions between male and female BRCA1/2 mutation carriers, unknown or missing data is excluded from χ2 test
  2. # χ2 test comparing proportions between male patients with and without BRCA1/2 mutation, unknown or missing data is excluded from χ2 test
  3. BRCA Breast cancer susceptibility gene, IBC Invasive breast carcinoma, NST Non-special type, CNS Central nervous system