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

Lotsari, Johanna E; Gylling, Annette; Abdel-Rahman, Wael M; Nieminen, Taina T; Aittomäki, Kristiina; Friman, Marjukka; Pitkänen, Reino; Aarnio, Markku; Järvinen, Heikki J; Mecklin, Jukka-Pekka; Kuopio, Teijo; Peltomäki, Päivi

doi:10.1186/bcr3205

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 status^a	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

^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.

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ISSN: 1465-542X

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