Table 3.
Germline mutations in the 50 carriers, along with germline/tumor (G/T) status
| Gene | Mutation (DNA) | Mutation (protein) | Location | N carriers | N G/T conc | N G/T disc | N G/T pair not tested |
|---|---|---|---|---|---|---|---|
| BRCA1 | c.68_69delAG | p.E23fsX17 | Ex 2 | 1 | 1 | 0 | 0 |
| BRCA1 | c.181T>G | p.C61G | Ex 5 | 2 | 1 | 0 | 1 |
| BRCA1 | c.1299_1302dupCAGT | p.D435fsX2 | Ex 11 | 2 | 1 | 1 | 0 |
| BRCA1 | c.1687C>T | p.Q563X | Ex 11 | 1 | 0 | 0 | 1 |
| BRCA1 | c.1953_1956delGAAA | p.K651fsX49 | Ex 11 | 1 | 1 | 0 | 0 |
| BRCA1 | c.3375_3376delTC | p.P1125fsX6 | Ex 11 | 1 | 0 | 1 | 0 |
| BRCA1 | c.3624delA | p.K1208fsX2 | Ex 11 | 1 | 0 | 1 | 0 |
| BRCA1 | c.3700_3704delGTAAA | p.V1234fsX8 | Ex 11 | 2 | 0 | 2 | 0 |
| BRCA1 | c.4065_4068delTCAA | p.N1355fsX10 | Ex 11 | 1 | 1 | 0 | 0 |
| BRCA1 | c.4391_4393delCTAinsTT | p.P1464fsX2 | Ex 14 | 1 | 1 | 0 | 0 |
| BRCA1 | c.5212G>A | p.G1738R | Ex 20 | 8 | 5 | 1 | 2 |
| BRCA1 | c.5251C>T | p.R1751X | Ex 20 | 3 | 0 | 0 | 3 |
| BRCA1 | c.5266dupC | p.Q1756fsX74 | Ex 20 | 6 | 1 | 5 | 0 |
| BRCA1 | c.5431C>T | p.Q1811X | Ex 23 | 1 | 1 | 0 | 0 |
| BRCA1 | c.5406+664_*8273del11052 | p.0 | Ex 23, 24 | 3 | 2 | 0 | 1 |
| BRCA1 | c.5467G>A | p.G1803_A1823del21 | Ex 23 | 1 | 1 | 0 | 0 |
| BRCA1 | c.5468-285_5592+4019del4429_insCACAG | p.0 | Ex 24 | 3 | 0 | 0 | 3 |
| BRCA1 | c.5497G>A | p.V1833M | Ex 24 | 1 | 0 | 1 | 0 |
| BRCA2 | c.2339C>G | p.S780X | Ex 11 | 1 | 0 | 1 | 0 |
| BRCA2 | c.3847_3848delGT | p.Val1283fsX2 | Ex 11 | 1 | 0 | 0 | 1 |
| BRCA2 | c.5946delT | p.S1982fsX22 | Ex 11 | 1 | 0 | 1 | 0 |
| BRCA2 | c.9097dupA | p.T3033fsX11 | Ex 23 | 1 | 1 | 0 | 0 |
| RAD51C | c.706-2A>G | p.V236_A279del44 | Int 4 | 2 | 2 | 0 | 0 |
| BARD1 | c.896_897insG | p.P300fsX2 | Ex 4 | 1 | 0 | 0 | 1 |
| BRIP1 | c.2334_2337dupTGTC | p.I779fsX17 | Ex 12 | 1 | 0 | 0 | 1 |
| MRE11 | c.1995-2A>G | p.? | Int 17 | 1 | 0 | 0 | 1 |
| RAD50 | c.326_329delCAGA | p.T109fsX2 | Ex 3 | 1 | 0 | 0 | 1 |
| NBN | c.265C>T | p.R89X | Ex 3 | 1 | 0 | 0 | 1 |
Notes: Ex: Exon; Int: Intron; N: Number; G/T conc: Germline mutation preserved in tumor; G/T disc: Germline mutation not present in tumor (highlighted); Pair not tested: Due to unavailable material; ?: Protein change not yet described.