Table 2. Pathogenic mutations found in four cases.
| Sample ID | Exon | Nucleotide substitution | Amino-acid substitution | Age of diagnosis | Pathology |
|---|---|---|---|---|---|
| BILAT-044 |
1 |
c.48+1G>A |
Donor splice site |
51 |
Bilateral LCIS, Bilateral ILC |
| BILAT-005 |
10 |
c.1465insC |
p.P489fs |
46 |
Bilateral LCIS, No ILC |
| BILAT-039 |
13 |
c.1942G>T |
p.E648X |
40 |
Bilateral LCIS, Unilateral ILC |
| BILAT-021 | 15 | c.2398delC | p.P799fs | 37 | Bilateral LCIS, Unilateral ILC |
Abbreviations: ILC=invasive lobular breast cancer; LCIS=lobular carcinoma in situ.