Skip to main content
. 2020 Apr 7;11(14):1244–1256. doi: 10.18632/oncotarget.27538

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.