Table 2.
Mutation types and classification in PIK3CA exon 9 and 20 of Chinese CRC patients.
| Mutation type | Amino acid change | Frequency in mutated patients | Cosimc ID | Detected by ARMS-based kits | Variants classification* | Reference for classification(PMID) |
|---|---|---|---|---|---|---|
| c.1633G>A | E545K | 32.0% (247/771) | COSM763 | Yes | II | 32259783 (27); 31091374 (28); |
| c.3140A>G | H1047R | 23.6% (182/771) | COSM775 | Yes | I | 20619739 (16); |
| c.1624G>A | E542K | 17.6% (136/771) | COSM760 | Yes | II | 32259783 (27); 31091374 (28); |
| c.3140A>T | H1047L | 3.9% (30/771) | COSM36289 | Yes | II | 32259783 (27); 31091374 (28); |
| c.1636C>A | Q546K | 3.5% (27/771) | COSM776 | No | II | 17376864 (29); 29985963 (30); 29970892 (24); |
| c.1634A>G | E545G | 2.5% (19/771) | COSM764 | No | II | 32259783 (27); 31091374 (28); |
| c.1637A>G | Q546R | 1.8% (14/771) | COSM12459 | No | II | 29970892 (24); 29533785 (31); 26627007 (32); |
| c.1634A>C | E545A | 1.8% (14/771) | COSM12458 | No | II | 32259783 (27); 31091374 (28); |
| c.3129G>T | M1043I | 1.7% (13/771) | COSM773 | No | II | 17376864 (29); 29970892 (24); 15930273 (33); 22430209 (34); |
| c.3139C>T | H1047Y | 1.0% (8/771) | COSM774 | No | II | 32259783 (27); 31091374 (28); |
| c.1636C>G | Q546E | 0.9% (7/771) | COSM6147 | No | II | 29970892 (24); 26627007 (32); |
| c.1637A>C | Q546P | 0.6% (5/771) | COSM767 | No | II | 17376864 (29); 29970892 (24); 26627007 (32); |
| c.3145G>C | G1049R | 0.6% (5/771) | COSM12597 | No | II | 29970892 (24); 26627007 (32); |
| c.3129G>A | M1043I | 0.5% (4/771) | COSM29313 | No | II | 17376864 (29); 29970892 (24); 15930273 (33); 22430209 (34); |
| c.1635G>C | E545D | 0.5% (4/771) | COSM27374 | No | II | 32259783 (27); 31091374 (28); |
| c.1637A>T | Q546L | 0.5% (4/771) | COSM25041 | No | III | Literature not found |
| c.1638G>T | Q546H | 0.5% (4/771) | COSM24712 | No | III | Literature not found |
| c.1635G>T | E545D | 0.4% (3/771) | COSM765 | Yes | II | 32259783 (27); 31091374 (28); |
| c.1625A>T | E542V | 0.3% (2/771) | COSM762 | No | II | 29970892 (24); 26627007 (32); |
| c.[1633G>A;3140A>G] | E545K; H1047R | 0.3% (2/771) | COSM763; COSM775 | Yes | I | 32259783 (27); 31091374 (28); 20619739 (16); |
| c.3075C>T | T1025T | 0.3% (2/771) | COSM21451 | No | IV | 26627007 (32); |
| c.3127A>G | M1043V | 0.3% (2/771) | COSM12591 | No | II | 17376864 (29); 29970892 (24); 18097548 (35); |
| c.3141T>A | H1047Q | 0.3% (2/771) | COSM1041524 | No | III | Literature not found |
| c.1601C>A | S534Y | 0.1% (1/771) | Not included | No | III | Literature not found |
| c.1613A>T | D538V | 0.1% (1/771) | Not included | No | III | Literature not found |
| c.1616C>G | P539R | 0.1% (1/771) | COSM759 | No | II | 17376864 (29); 29970892 (24); 18951408 (36); |
| c.[1620C>A;3129G>T] | L540L; M1043I | 0.1% (1/771) | Not included; COSM773 | No | II | 25146167 (37); |
| c.1622C>T | S541F | 0.1% (1/771) | COSM6438100 | No | III | Literature not found |
| c.1625A>G | E542G | 0.1% (1/771) | COSM761 | No | III | Literature not found |
| c.[1624G>A;3127A>T] | E542K; M1043L | 0.1% (1/771) | COSM760; COSM5731063 | Yes | II | 32259783 (27); 31091374 (28); 29970892 (24); 31699932 (38); 29533785 (31); |
| c.[1624G>A;3139C>T] | E542K; H1047Y | 0.1% (1/771) | COSM760; COSM774 | Yes | II | 32259783 (27); 31091374 (28); |
| c.1631C>A | T544N | 0.1% (1/771) | COSM249872 | No | III | Literature not found |
| c.1631C>T | T544I | 0.1% (1/771) | COSM249876 | No | III | Literature not found |
| c.1633G>C | E545Q | 0.1% (1/771) | COSM27133 | No | II | 32259783 (27); 31091374 (28); |
| c.1635G>A | E545E | 0.1% (1/771) | COSM1716554 | No | IV | 26627007 (32); 31404155 (39); |
| c.[1635G>A;1636C>A] | E545E; Q546K | 0.1% (1/771) | COSM1716554; COSM776 |
No | II | 32259783 (27); 31091374 (28); 17376864 (29); 29985963 (30); 29970892 (24); |
| c.[1633G>A;3129G>A] | E545K; M1043I | 0.1% (1/771) | COSM763; COSM29313 | Yes | II | 32259783 (27); 31091374 (28); |
| c.[1633G>A;3139C>T] | E545K; H1047Y | 0.1% (1/771) | COSM763; COSM774 | Yes | II | 32259783 (27); 31091374 (28); |
| c.[1634A>G;3139C>T] | E545G; H1047Y | 0.1% (1/771) | COSM764; COSM774 | No | II | 32259783 (27); 31091374 (28); |
| c.[1633G>A;3143A>G] | E545K; H1048R | 0.1% (1/771) | COSM763; COSM36289 | Yes | II | 32259783 (27); 31091374 (28); |
| c.[1637A>G;3140A>G] | Q546R; H1047R | 0.1% (1/771) | COSM775; COSM775 | Yes | I | 20619739 (16); 29970892 (24); 29533785 (31); 26627007 (32); |
| c.1637_1638delinsGT | Q546R | 0.1% (1/771) | Not included | No | II | 29970892 (24); 29533785 (31); 26627007 (32); |
| c.1637_1638delinsCC | Q546P | 0.1% (1/771) | COSM6959028 | No | II | 17376864 (29); 29970892 (24); 26627007 (32); |
| c.1639G>C | E547Q | 0.1% (1/771) | Not included | No | III | Literature not found |
| c.1645G>T | D549Y | 0.1% (1/771) | Not included | No | III | Literature not found |
| c.1651C>T | L551L | 0.1% (1/771) | COSM308546 | No | III | 22287190 (40); |
| c.3073A>G | T1025A | 0.1% (1/771) | COSM771 | No | II | 17376864 (29); 16764926 (41); |
| c.3106G>A | E1036K | 0.1% (1/771) | Not included | No | III | Literature not found |
| c.3113A>G | Y1038C | 0.1% (1/771) | COSM27489 | No | III | Literature not found |
| c.3135T>C | D1045D | 0.1% (1/771) | Not included | No | III | Literature not found |
| c.[3133G>A;3140A>G] | D1045N; H1047R | 0.1% (1/771) | COSM775; COSM775 | No | I | 20619739 (16); |
| c.3139C>G | H1047D | 0.1% (1/771) | Not included | No | III | Literature not found |
| c.3145G>A | G1049S | 0.1% (1/771) | COSM777 | No | III | Literature not found |
| c.3146G>C | G1049A | 0.1% (1/771) | COSM27158 | No | III | Literature not found |
| c.3218G>A | *1073* | 0.1% (1/771) | Not included | No | IV | Literature not found |
| c.3165dup | M1055fs | 0.1% (1/771) | Not included | No | III | 30941989 (42); 28461758 (43); 21990951 (44); |
| c.3126dup | Q1042fs | 0.1% (1/771) | Not included | No | III | 30941989 (42); 28461758 (43); 21990951 (44); |
| c.3204dup | N1068fs | 0.1% (1/771) | Not included | No | III | 30941989 (42); 28461758 (43); 21990951 (44); |
Variants classification*: according to the instruction guidelines of ACMG (45). II: variants of potential clinical significance; III: variants of unknown clinical significance; IV: benign or likely benign variants.