Table 3. MMR protein immunohistochemistry and germline MMR gene mutations in LS-related SIAC.
| MMR protein expression loss (n = 8) | n | Germline MMR gene mutation* | |||
|---|---|---|---|---|---|
| MLH1 | PMS2 | MSH2 | MSH6 | ||
| MLH1 and PMS2 | 1 (12%) | c./93G>Ac.1039/29A>T | c.288C>Tc.705+17A>Gc.706/5_706/4delTTc.780C>Gc.903+84C>Tc.903+100T>Gc.1408C>Tc.1454C>Ac.1621A>Gc.2006+6G>A | ||
| MSH2 and MSH6 | 5 (63%) | c.211+9C>Gc.211+98T>Cc.942+25_942+29delAAAAAc.1276+47T>Ac.1661+12G>Ac.1759+107A>G | c.3438+14A>Tc.3646+35_3646+38delATCTc.3646+91T>Cc.3802/40C>Gc.4002/10delT | ||
| c.211+9C>Gc.942+26_942+29delAAAAc.1215C>Ac.1661+12G>A | c.1063G>Ac.3438+14A>Tc.3802/40C>Gc.4002/10delT | ||||
| c.211+9C>Gc.680_681delGAc.942+27_942+29delAAAc.1077/80G>Ac.1168C>Tc.1511/91G>Tc.1661+12G>Ac.1759+107A>Gc.2006/6T>C | c.116G>Ac.261/36A>Gc.458/52G>Tc.3173/101G>Cc.3306T>Ac.3438+14A>Tc.3646+35_3646+38delATCTc.3646+91T>Cc.3802/40C>Gc.4002/10delT | ||||
| c.211+9C>Gc.942+24_942+29delAAAAAAc.1661+12G>Ac.2006/6T>Cc.2576A>T | c.2765G>Ac.3438+14A>Tc.3646+35_3646+38delATCTc.3802/40C>Gc.4002/26_4002/25insCTc.4002/28_4002/26dupCTTc.4068_4071dupGATT | ||||
| c.942+8A>Tc.942+25_942+29delAAAAA | c.3438+14A>Tc.3646+35_3646+38delATCTc.3802/40C>Gc.4002/10delT | ||||
| PMS2, MSH2, and MSH6 | 2 (25%) | c.23+72C>Tc.59G>Ac.288C>Tc.706/4delTc.780C>Gc.1454C>Ac.1621A>Gc.2006+6G>A | c.211+9C>Gc.1661+12G>A | c.3438+14A>Tc.3802/40C>Gc.3306T>A | |
| c.23+72C>Tc.705+17A>Gc.706/4delTc.780C>Gc.1408C>Tc.1621A>G | c.211+9C>Gc.942+25_942+29delAAAAAc.1661+12G>Ac.2005+61delT | c.3438+14A>Tc.3646+35_3646+38delATCTc.3802/40C>Gc.4002/10delT | |||
*Known germline mutations registered in the LOVD and InSiGHT database and ClinVar archive are shown in bold.