Table 1. Pathogenic mutations found in 116 LS patients.
| ID | Gene | Loss of IHC | Alteration | Consequence | Exon | Cancer (age) | Inclusion criteria | Reference |
|---|---|---|---|---|---|---|---|---|
| 2–10 | MSH2 | - | c.174dup | p.Lys59Glnfs*23 | 1 | CC/SC (45/48) | BG | 12 |
| 2–2 | MSH2 | - | c.187del | p.Val63fs*1 | 1 | CC (21) | AC-I | 12 |
| 170 | MSH2 | MSH2/MSH6 | c.528_529del | p.Cys176* | 03 | SigC (61) | BG | Current study—Novel |
| 154 | MSH2 | - | c.942+3A>T | - | i5 | EC/CC/SC | AC-I | Current study -Insight |
| 047 | MSH2 | MSH2/MSH6 | c.942+3 A>T | - | i5 | CCsinc (51/51) | AC-I | 12 |
| 153 | MSH2 | MSH2/MSH6 | c.1143_1144insA | p.Arg382Thrfs*7 | 07 | EC/CC (53/53) | BG | Current study—Novel |
| 043 | MSH2 | MSH2/MSH6 | c.1444A>T | p.Arg482* | 09 | CC (53) | AC-I | 12 |
| 150 | MSH2 | - | c.1444A>T | p.Arg482* | 09 | RC (32) | AC-I | Current study—Insight |
| 008 | MSH2 | MSH2/MSH6 | c.1447G>T | p.Glu483* | 09 | CCsin/RPC (27/44) | AC-I | 12 |
| 010 | MSH2 | MSH2/MSH6 | c.1667delT | p.Leu556* | 11 | CC (63) | AC-I | 12 |
| 042 | MSH2 | MSH2/MSH6 | c.1967_1970dup | p.Phe657Leufs*3 | 12 | RC (15) | BG | 12 |
| 028 | MSH2 | - | c.2131C>T | p.Arg711* | 13 | CC (62) | AC-I | 12 |
| 165 | MSH2 | - | c.2145del | p. p.Asp716Thrfs*4 | 13 | CC/EC/SC (28/33/43) | AC-I | Current study—Novel |
| 020 | MSH2 | MSH2/MSH6 | c.2152C>T | p.Gln718* | 13 | CCsin/EC (47/49) | AC-I | 12 |
| 041 | MSH2 | MSH2/MSH6 | c.2152C>T | p.Gln718* | 13 | CCsin (36) | AC-I | 12 |
| 074 | MSH2 | MSH2/MSH6 | c.2152C>T | p.Gln718* | 13 | EC (49)/CC (52/55) | AC-I | 12 |
| 2–3 | MSH2 | - | c.2152C>T | p.Gln718* | 13 | CC/EC (41/52) | AC-I | 12 |
| 2–9 | MSH2 | - | c.2152C>T | p.Gln718* | 13 | CC (29) | BG | 12 |
| 017 | MSH2 | No | Exon 5 amplification | - | 5 | CC (68) | AC-I | Current study-Novel |
| 006 | MSH2 | - | c. 2525_2526delAG | p.Glu842Valfs*3 | 15 | CC (44) | AC-I | 12 |
| 036 | MSH2 | - | EPCAM-MSH2 (exon1-4) deletion | - | 1–4 | CCsin/EC/GC (44/45/50) | AC-I | Current study—Novel |
| 173 | MSH2 | - | Exon 6 deletion | - | 6 | CC (42) | Muir-Torre | Current study—Insight |
| 003 | MSH2 | - | Exon 7 deletion | - | 7 | CC (29) | AC-I | Current study—Insight |
| 024 | MSH2 | MSH2/MSH6 | Exon 8 deletion | - | 8 | CCsin/SBC (43/51) | AC-I | Current study—Insight |
| 072 | MSH2 | MSH2/MSH6 | Exon 14 deletion | - | 14 | CC (51) | AC-I | Current study—Novel |
| 156 | MLH1 | - | c.83C>T | p.Pro28Leu | 01 | CC (46) | AC-I | Current study—Insight |
| 001 | MLH1 | MLH1/PMS2 | c.545+3 A>G | - | 06 | CC/GC (40/42) | AC-I | 12 |
| 2–1 | MLH1 | - | c.545+3A>G | - | 06 | CC (58) | AC-I | 12 |
| 031 | MLH1 | PMS2 | c.588+2T>A | - | 07 | CC/HC (43/50) | AC-I | 12 |
| 021 | MLH1 | MLH1/PMS2 | c.588+5G>C | - | 07 | CC/EC (36/47) | AC-I | 12 |
| 2–8 | MLH1 | - | c.677G>A | p.Arg226Gln | 08 | RC/CC (31/44) | BG | 12 |
| 023 | MLH1 | MLH1/PMS2 | c.779T>G | p.Leu260Arg | 09 | CC (38) | BG | 12 |
| 033 | MLH1 | PMS2 | c.791-6_793del | - | 10 | CCsin (42) | AC-I | 12 |
| 2–6 | MLH1 | - | c.1276C>T | p.Gln426* | 12 | CC (65) | BG | 12 |
| 076 | MLH1 | - | c.1459C>T | p.Arg487* | 13 | CC (20) | BG | 12 |
| 103 | MLH1 | - | c.1639_1643dup | p.Leu549Tyrfs*44 | 14 | OC/EC/CC (37/37/45) | AC-I | 12 |
| 058 | MLH1 | PMS2 | c.1853delAinsTTCTT | p.Lys618Ilefs*4 | 16 | CC (40) | AC-I | 12 |
| 081 | MLH1 | PMS2 | c.1975C>T | p.Arg659* | 17 | CCsin (28) | AC-I | 12 |
| 099 | MLH1 | - | c.2041G>A | p.Ala681Thr | 18 | CC (47) | AC-I | 12 |
| 022 | MLH1 | No | c.2224C>T | p.Gln742* | 19 | CC (32) | BG | 12 |
| 152 | MSH6 | - | c.1483C>T | p.Arg495* | 04 | CC (59) | BG | Current study—Novel |
| 050 | MSH6 | - | c.2379_2380del | p.Ala794Hisfs*9 | 04 | EC/BC/PC (49/69/70) | AC-II | Current study—Novel |
| 2–13 | MSH6 | - | c.3487G>T | p.Glu1163* | 06 | CC (39) | BG | Current study—Novel |
| 032 | MSH6 | - | c.3974_3976del | p.Lys1325del | 09 | CC/LC (41/44) | BG | Current study—Novel |
| 088 | PMS2 | - | c.1239dup | p.Asp414Argfs*45 | 11 | CC (37) | AC-I | Current study—Novel |
CC: Colon cancer; SC: Sebaceous carcinoma;SigC: Sigmoide adenocarcinoma; EC: Endometrial cancer; CCsin: Synchronic colon cancer; RC: Rectal cancer; RPC: Cancer of Renal Pelvis; SBC: Small Bowel cancer; GC: Gastric Cancer; HC: Hepatobiliary cancer; OC: Ovarian cancer, BC: Breast cancer; PC:Pancreatic cancer; LC: Lung cancer. AC-I: Amsterdam I; AC-II: Amsterdam II; BG: Bethesda guideline. The ref seq numbers for mutation description were: MLH1 (NM_000249), MSH2 (NM_000251.1), MSH6 (NM_000179.1), PMS1 (NM_000534.4) and PMS2 (NM_000535.5); -: Not available