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Table 2 MMR status and TSG promoter methylation results case by case for breast carcinomas from MMR gene mutation carriers

From: Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases

      MMR protein expression   
Case ID Predisposing mutation Histology Age at diagnosis MSI status MLH1 MSH2 MSH6 Overall MMR statusa Average number of TSGs methylated out of 24/tumor
2:51 MLH1 ex 16: 3,5 Kb deletion (mutation I) ductal in situ 52 MSI - + + abnormal 1
3:60 MLH1 ex 16: 3,5 Kb deletion (mutation I) ductal 66 MSS + + + normal 2
10:11 MLH1 ex 16: 3,5 Kb deletion (mutation I) ductal 50 MSS - + ND abnormal 0
50:44 MLH1 ex 16: 3,5 Kb deletion (mutation I) ductal, left breast 71 MSS + + + normal 1
   lobular, right breast 72 MSS - + ND abnormal 4
62:1 MLH1 ex 16: 3,5 Kb deletion (mutation I) ductal + in situ 52 MSI - ND ND abnormal 3
77:15 MLH1 ex 16: 3,5 Kb deletion (mutation I) ductal, right breast 43 MSI - + + abnormal 0
   lobular, left breast 47 MSS - + ND abnormal 1
77:24 MLH1 ex 16: 3,5 Kb deletion (mutation I) lobular 51 MSS + + + normal 0
143:1 MLH1 c.454-1G>A, splice site ductal 56 MSI - + + abnormal 3
157:1 MLH1 c1489insC ductal 54 MSI - + + abnormal 4
136:1 MSH2 c.1738insA ductal + in situ 79 MSS ND ND ND ND 2
180:1 MSH2 del ex 1-16 ductal 60 MSS ND ND ND ND 1
191:1 MSH2 ex1-7 deletion and MEN1 mutation ductal, right breast, small tumor 48 MSI + - - abnormal 2
   ductal, right breast, large tumor 48 MSI + - - abnormal 4
197:1 MSH2 c.187delG ductal 55 MSI + - - abnormal 1
132:1 MSH6 c.2983 G>T, nonsense and CHEK2 c.1100delC ductal in situ 69 MSS + ND + normal 1
132:2 MSH6 c.2983 G>T, nonsense and CHEK2 c.1100delC ductal 35 MSS ND ND ND ND 1
196:1 MSH6 ex1-2 deletion ductal, left breast 52 MSS + + - abnormal 2
   ductal, right breast 56 MSS + + - abnormal 3
196:2 MSH6 ex1-2 deletion ductal 56 MSS + + + normal 2
196:3 MSH6 ex1-2 deletion mucinous 68 MSS + + + normal 2
196:4b MSH6 ex1-2 deletion ductal 49 MSS + + + normal 12
  1. aAbnormal MMR status denotes absence of MMR protein corresponding to the germline mutation, presence of MSI, or both. Normal MMR status requires intact MMR protein expression relative to germline mutation and stable microsatellites. NOTE: ND, not defined; for IHC, -, protein absent, +, protein present. IHC, immunohistochemistry; MMR, mismatch repair; MSI, microsatellite instability; TSG, tumor suppressor gene.