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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