Suspicions regarding the genetic inheritance of acute lymphoblastic leukemia in patients with down syndrome
Article Category: Review articles
Publié en ligne: 20 juil. 2022
Pages: 104 - 110
Reçu: 12 janv. 2022
Accepté: 05 avr. 2022
© 2022 Emir Behluli et al., published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.
Mutations in genes encountered in people with DS-ALL
Gene |
Position of changes |
References |
JAK |
V617F |
[17] |
JAK |
p.R683G |
[19] |
JAK |
p.R683K |
[19] |
JAK1 |
p.V658F |
[12] |
JAK2 |
p.T875N |
[12] |
JAK2 |
p.G861W |
[12] |
GATA3 |
c.778+1123T; c.779- 1748 |
[24] |
PIP4K2A |
c.678+761C>G |
[24] |
MSH6 |
p.T915A |
[27] |
IL7R |
p.S185C |
[28] |
CRLF2 |
p.F232C |
[28] |
USP9X |
p.F1115Lfs |
[28] |
PAX5 |
p.Gly186Ser |
[30; 31] |
IKZF1 |
p.Arg162Pro |
[32] |
IKZF1 |
p.His163Trp |
[33] |
IKZF1 |
p.Arg162Leu |
[34] |
IKZF1 |
p.Arg162Gln |
[34] |
NBN |
p.R162W |
[34] |
NBN |
p.K233Sfs*4 |
[34] |
RTEL1 |
p.R918W |
[34] |
MLLT1 |
p.R473Q |
[34] |
FOXP1 |
p.Q3Sfs*80 |
[34] |
ERG |
c.373+951A>G |
[4; 5] |
CDKN2A |
p.A148T |
[37] |
ETV6 |
p.A377T |
[39] |
ETV6 |
p.Y401N |
[39] |
ETV6 |
p.Pro214Leu |
[40] |
ETV6 |
p.Gln198* |
[40] |
ETV6 |
p.Leu379Pro |
[40] |
NF1 |
p.Val146Ile |
[40] |
RUNX1 |
p.Ile366_Gly367dup |
[40] |
ASXL1 |
p.Pro845Leu |
[40] |