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Table 1 BRCA1 mutations in 140 TNBC specimens

From: Identification of BRCA1-like triple-negative breast cancers by quantitative multiplex-ligation-dependent probe amplification (MLPA) analysis of BRCA1-associated chromosomal regions: a validation study

Sample

Exon

Nucleotide position

(BIC nomenclaturea)

Effect

Age

Family history of cancer

1

2

c.185_187delAG

fs39X

<50 y

Yes

2

5

c.300 T > G

p.C61G

>50 y

n.a.

3

5

c.300 T > G

p.C61G

<50 y

n.a.

4

5

c.331 + 1G > T

Splice defect

>50 y

n.a

5

7

c.560 + 1delGb

Splice defect

>50 y

No

6

11

c.2035 T > A

p.L639X

>50 y

Yes

7

11

c.3600del11

fs1163X

<50 y

n.a.

8

11

c.3600del11

fs1163X

<50 y

Yes

9

11

c.3600del11

fs1163X

>50 y

No

10

11

c.3819del5

fs1242X

<50 y

Yes

11

11

c.3875del4

fs1262X

<50 y

n.a.

12

11

c.3875del4

fs1262X

>50 y

n.a.

13

16

c.5007G > Tb

p.E1630X

<50 y

n.a.

14

19

c.5298A > T

p.K1727X

<50 y

Yes

15

20

c.5370C > T

p.R1751X

<50 y

Proven somaticc

16

20

c.5385–5386insC

fs1829X

<50 y

n.a.

17

20

c.5385–5386insC

fs1829X

>50 y

n.a

18

21

IVS21 + 1G > T

Splice defect

<50 y

n.a.

  1. aBIC, Breast Cancer Information core:[http://research.nhgri.nih.gov/bic/]; all variants with the exception of two cases are known pathogenic mutations listed in the BIC database
  2. bnot found in public data bases
  3. c blood test negative; n.a., not available