Table 1.
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