High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients

Table 1 Selected clinical and pathological characteristics of the 523 Pakistani cases according to TNBC status

Parameters	TNBC (N = 192)	Non-TNBC (N = 331)	P ^a
Parameters	n (%)	n (%)	P ^a
Age at diagnosis of BC (years)
Mean	31.6	35.6	< 0.0001 ^b
Range	18–67	19–73
Family phenotype
1 early-onset BC (≤30 years)	90 (46.9)	147 (44.4)	NS^c
Familial BC	76 (39.6)	159 (48.0)
Familial BC and OC	26 (13.6)	25 (7.6)
Menopausal status
Premenopausal	174 (91.1)	267 (80.7)	0.002 ^d
Postmenopausal	17 (8.9)	64 (19.3)
Unknown	1	0
Ethnicity
Punjabi	151 (79.5)	229 (69.2)	0.03 ^e
Pathan	19 (10.0)	54 (16.3)
Others	20 (10.5)	48 (14.5)
Unknown	2	0
Histology
Ductal	185 (96.4)	294 (89.4)	0.004 ^f
Lobular	1 (0.5)	15 (4.6)
Mixed^g	2 (1.0)	11 (3.3)
Mucinous	0	6 (1.8)
Metaplastic	2 (1.0)	3 (0.9)
Medullary	2 (1.0)	0
Unknown	0	2
Tumor size
pT1	30 (20.3)	71 (26.9)	NS^h
pT2	91 (61.5)	147 (55.7)
pT3	24 (16.2)	44 (16.7)
pT4	3 (2.0)	2 (0.7)
Unknown	44	67
Tumor grade (Nottingham)
1	0	5 (1.6)	< 0.0001 ⁱ
2	20 (11.2)	111 (35.5)
3	158 (88.8)	197 (62.9)
Unknown	14	18
Lymph node status
Positive	83 (46.1)	212 (67.5)	< 0.0001 ^j
Negative	97 (53.9)	102 (32.5)
Unknown	12	17

P values marked in bold are statistically significant
BC breast cancer, NS non-significant, OC ovarian cancer, TNBC triple-negative breast cancer. ^aFisher’s exact test. ^bWilcoxon rank-sum test. ^cEarly-onset vs. familial BC and early-onset vs. familial BC and OC. ^dPremenopausal vs. postmenopausal. ^ePunjabi vs. Pathan. ^fDuctal vs. others. ^gIncluding ductal carcinomas with lobular and mucinous features. ^hpT1 vs. pT2+. ⁱGrade 1, 2 vs. 3. ^jLymph node positive vs. negative

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