Table 4.
Mutations Identified In Endometrial Cancer Patients.
| FGFR2 Mutation | # cases | Germline Syndrome | Functional data References | Species conservn | FGFR conservn | Mutation Assessor | PolyPhen2 | Reported as somatic in a cancer associated with FGFR dependence |
|---|---|---|---|---|---|---|---|---|
| Known Activating | ||||||||
| S252Wa | 64 | FGFR2 | [7,13–15] | Y | Y | Medium | Prob. Damaging | [6–8] |
| N550K b,c | 20 | FGFR2/3 | [7,16] | Y | Y | Neutral | Prob. Damaging | [6,7,17–20] |
| N550H | 4 | FGFR2/3 | [16] | Y | Y | Low | Prob. Damaging | [6,8] |
| N550T | 2 | [16] | Y | Y | Neutral | Prob. Damaging | ||
| N550D | 1 | Y | Y | Low | Prob. Damaging | [20] | ||
| C383R | 14 | FGFR1 | [7,21] | Y | Y | medium | Poss. Damaging | [6,7,18,19,22–25] |
| K660Ed | 7 | FGFR3 | [26] | Y | Y | low | Prob. Damaging | [6,8] |
| K660M | 1 | FGFR3 | [26] | Y | Y | low | Prob. Damaging | [7] |
| K660R | 1 | [26] | Y | Y | neutral | Prob. Damaging | ||
| Y376C | 6 | FGFR1/2/3 | [27,28] | Y | Y | medium | Prob. Damaging | [6,22,29] |
| P253R | 4 | FGFR2 | [7,13–15] | Y | Y | Low | Benign | [6–8] |
| G385R | 1 | FGFR2 | [30] | Y | Y | medium | Prob. Damaging | [30] |
| Putative Activating | ||||||||
| F276E | 1 | FGFR2 | Y | Y | High | Poss. Damaging | [22] | |
| A380S | 1 | Y | N | low | Poss. Damaging | |||
| A380T | 1 | Y | N | low | Poss. Damaging | |||
| Y382D | 1 | FGFR2 | [31] | Y | Y | Medium | Prob. Damaging | [32] |
| M392R | 2 | FGFR2 | [31] | Y | 1/2 | Medium | Poss. Damaging | [6] |
| V396D | 2 | N | 1/2/3 | Medium | Prob. Damaging | [6,18] | ||
| I548V | 1 | Y | Y | Neutral | Poss. Damaging | [6] | ||
| D651Y | 1 | Y | Y | low | Prob. Damaging | [33] | ||
| Variants of unknown Significance | ||||||||
| R251X | 1 | Y | Y | Truncation | Truncation | |||
| V274I | 1 | Y | Y | low | Prob. Damaging | |||
| V294M e | 1 | Y | N | low | Poss. Damaging | |||
| V311I e | 1 | Y | N | low | Benign | |||
| p.E378_C383delInsR | 1 | In/del | In/del | |||||
| p.I388_M391Idel | 1 | In/del | In/del | |||||
| D627Y | 1 | Y | Y | High | Prob. Damaging | |||
| A629E | 1 | Y | Y | High | Prob. Damaging | |||
| E637K | 1 | Y | Y | neutral | Prob. Damaging | |||
| L551I b | 1 | Y | Y | low | Prob. Damaging | |||
| L551F c | 1 | Y | Y | low | Prob. Damaging | |||
| V294La | 1 | Y | N | neutral | Benign | |||
| N653S d | 1 | Y | N | neutral | Benign | |||
a
One tumor carried a S252W and V294L mutation.
b
One tumor carried a N550K and L551I mutation.
c
One tumor carried a N550K and L551F mutation.
d
One tumor carried a K660E and N653S mutation.
e
MSI with MLH1 methylation.