Критерии отбора ФГБУ «ГНЦК имени А.Н. Рыжих» для российских пациентов
- Пациент с колоректальным раком в возрасте до 43 лет.
- Наряду с колоректальным раком еще 2 случая и более злокачественных опухолей любой локализации у самого пациента или у кровных родственников независимо от возраста.
Минимальный список мутаций генов RAS для тестирования при раке толстой кишки
| Ген | Мутация |
| KRAS (2 экзон) | c.35G>A (p.Gly12Asp) |
| c.35G>T (p.Gly12Val) |
| c.35G>C (p.Gly12Ala) |
| c.34G>T (p.Gly12Cys) |
| c.34G>A (p.Gly12Ser) |
| c.34G>C (p.Gly12Arg) |
| с.37_38delins2 (p.Gly12Phe) |
| c.38G>A (p.Gly13Asp) |
| c.38G>C (p.Gly13Ala) |
| c.37G>T (p.Gly13Cys) |
| c.37G>A (p.Gly13Ser) |
| c.37G>C (p.Gly13Arg) |
| c.38G>T (p.Gly13Val) |
| KRAS (3 экзон) | c.176C>A (p.Ala59Glu) |
| c.176C>G p.Ala59Gly) |
| c.175G>T (p.Ala59Ser) |
| c.175G>A (p.Ala59Thr) |
| c.183A>C (p.Gln61His) |
| c.181C>G (p.Gln61Glu) |
| c.183A>T (p.Gln61His) |
| c.181C>A (p.Gln61Lys) |
| c.182A>T (p.Gln61Leu) |
| c.182A>C (p.Gln61Pro) |
| c.182A>G (p.Gln61Arg) |
| KRAS (4 экзон) | c.351A>C (p.Lys117Asn) |
| c.351A>T (p.Lys117Asn) |
| c.349A>G (p.Lys117Glu) |
| c.350A>G (p.Lys117Arg) |
| c.436G>C (p.Ala146Pro) |
| c.436G>A (p.Ala146Thr) |
| c.437C>T (p.Ala146Val) |
| NRAS (2 экзон) | c.34G>A (p.Gly12Ser) |
| c.34G>C (p.Gly12Arg) |
| c.34G>T (p.Gly12Cys) |
| c.35G>A (p.Gly12Asp) |
| c.35G>C (p.Gly12Ala) |
| c.35G>T (p.Gly12Val) |
| c.37G>A (p.Gly13Ser) |
| c.37G>C (p.Gly13Arg) |
| c.37G>T (p.Gly13Cys) |
| c.38G>A (p.Gly13Asp) |
| c.38G>C (p.Gly13Ala) |
| c.38G>T (p.Gly13Val) |
| NRAS (3 экзон) | c.175G>A (p.Ala59Thr) |
| c.176C>A (p.Ala59Asp) |
| c.176C>G (p.Ala59Gly) |
| c.175G>T (p.Ala59Ser) |
| c.181C>A (p.Gln61Lys) |
| c.181C>G (p.Gln61Glu) |
| c.182A>G (p.Gln61Arg) |
| c.182A>C (p.Gln61Pro) |
| c.183A>C (p.Gln61His) |
| c.183A>T (p.Gln61His) |
| c.182A>T (p.Gln61Leu) |
Классификация мутаций в гене BRAF
| Мутация | Класс мутации |
| V600 E/K/D/R/L | 1 |
| T599_V600TinsT | 2 |
| T599I/dup/V600insT | 2 |
| T599R | 2 |
| G464 A/E/V/R | 2 |
| G469 A/V/S/R/L/T170delinsAK | 2 |
| V471F | 2 |
| K499E | 2 |
| F595 L | 2 |
| L596 Q/R/S/V | 2 |
| L597 V/S/R/Q/P/K | 2 |
| I483S | 2 |
| L485 F/W | 2 |
| L485_P490delinsY | 2 |
| L505H/F | 2 |
| L525 R | 2 |
| E586K | 2 |
| Q257R | 2 |
| K601 E/N/Q/T | 2 |
| BRAF транслокации | 2 |
| A598 V/T599insV | 2 |
| N486_P490del | 2 |
| V487_P492delinsA | 2 |
| V600_K601del | 2 |
| V600_K601 D/E/N | 2 |
| V600_K602delinsE | 2 |
| V600_K602delinsDT | 2 |
| V600_S605delinsEISRWR | 2 |
| V600_W604delinsDQTDG | 2 |
| G466 E/V/R/A | 3 |
| G469 E | 3 |
| K483 M/E | 3 |
| N581 I/S/T/Y/K | 3 |
| D594 A/H/V/G/N/E/Y/F | 3 |
| G596 V/R/C | 3 |
| F595 L | 3 |
| F247 L | 3 |
| Q524 L | 3 |
| R558 Q | 3 |
| S467 L | 3 |
| T470 R | 3 |
| D287H | 3 |
| T599A | 3 |