Table 1.

BRCA1 mutations in 140 TNBC specimens

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.

^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

^bnot found in public data bases

^c blood test negative; n.a., not available