Table 1. Molecular characteristics of breast carcinomas case by case.
Sample ID | Predisposing germline variant | MMR protein IHC | MSI status | Second hit status* | Mutations/Mb | |
---|---|---|---|---|---|---|
dMMR LS-BC | BC5_31814T | MLH1 ex 16, 3.5 kb genomic deletion (Mut I) | negat | MSS | L | 141 |
BC6_31489T | MLH1 ex 16, 3.5 kb genomic deletion (Mut I) | negat | MSI | L, s | 725 | |
BC11_31501T | MLH1 ex 16, 3.5 KB genomic deletion (Mut I) | negat | MSI | L | 24 | |
BC11_31533T | MLH1 ex 16, 3.5 Kb genomic deletion (Mut I) | negat | MSS | L | 5 | |
BC12_31491T | MLH1 ex 16, 3,5 kb genomic deletion (Mut I) | negat | MSI | None | 22 | |
BC14_33229T | MLH1 ex 16, 3.5 kb genomic deletion (Mut I) | negat | MSS | s | 662 | |
BC9_33225T | MLH1 c.454-1G>A (mutation II) | negat | MSI | L | 29 | |
BC7_33223T | MSH2 c.187delG | negat | MSI | L | 15 | |
BC37_33228T | MSH2 ex 1-7 genomic deletion/MLPA | negat | MSI | s | 12 | |
BC1_33203T | MSH6 ex 1-2 genomic deletion/MLPA | negat | MSS | s | 35 | |
BC1_31528T | MSH6 ex 1-2 genomic deletion/MLPA | negat | MSS | s | 246 | |
pMMR LS-BC | BC5_31495T | MLH1 ex 16, 3.5 kb genomic deletion (Mut I) | posit | MSS | None | 31 |
BC13_31486T | MLH1 ex 16, 3.5 kb genomic deletion (Mut I) | posit | MSS | s | 85 | |
BC4_31514T | MLH1 ex 16, 3.5 kb genomic deletion (Mut I) | posit | MSS | L | 4 | |
BC38_31510T | MLH1 c.454-1G>A (mutation II) | posit | MSS | s | 53 | |
BC8_33226T | MSH2 ex 1-16 genomic deletion/MLPA | posit | MSS | None | 8 | |
BC10_33221T | MSH2 c.1738insA | posit | MSS | L | 2 | |
BC2_31518T | MSH6 ex 1-2 genomic deletion/MLPA | posit | MSS | s | 108 | |
BC39_33217T | MSH6 ex 1-2 genomic deletion/MLPA | posit | MSS | ND | 2 | |
BC40_31503T | MSH6 c.2983G>T (nonsense) | posit | MSS | None | 5 | |
NC-BC | BC24_31711T | Non-carrier | posit | MSS | N/A | 1 |
BC23_33198T | Non-carrier | posit | MSS | N/A | 1 | |
BC21_31702T | Non-carrier | posit | MSS | N/A | 5 | |
BC20_33207T | Non-carrier | posit | MSS | N/A (ds) | 306 | |
BC19_31706T | Non-carrier | posit | MSS | N/A | 2 | |
BC18_33215T | Non-carrier | posit | MSS | N/A | 3 | |
BC16_33205T | Non-carrier | posit | MSS | N/A (ds) | 393 | |
BC43_33196T | Non-carrier | posit | MSS | N/A | 5 | |
BC15_31696T | Non-carrier | posit | MSS | N/A (ds) | 161 | |
BC17_31692T | Non-carrier | posit | MSS | N/A | 2 |
*L, LOH; s, somatic mutation; ds, double somatic mutation.