|
rs387906351
|
|
AT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs398122513
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs398122840
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs765576835
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We describe a pedigree with FANCD2 mutations c.458T > C (p.Leu153Ser) and c.2715 + 1G > A (p.Glu906LeufsX4) with mild phenotype FA in the index case, T cell ALL in the Leu153Ser heterozygous brother and testicular seminoma in the p.Glu906LeufsX4 heterozygous father.
|
22829014 |
2012 |
|
rs765576835
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia.
|
17096012 |
2007 |
|
rs2307859
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Six polymorphisms were identified, all of them are belonging to single nucleotide polymorphisms (SNPs) that are recorded in genebank: rs5029924, rs5029937, rs2230926, rs582757 and rs77191406, while rs2307859 was not identified in the SS sample, which is found in all T-ALL.
|
28296250 |
2018 |
|
rs786202195
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A previous study of 4 A-T patients identified 2 rare homozygous missense mutations residing on the same allele of the ATM gene: c.1514T>C and c.1547T>C, which were shown to decrease ATM levels and increase T-cell acute lymphoblastic leukemia predisposition.
|
30124550 |
2018 |
|
rs1431156021
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified missense mutation, p.Ala644Thr, which has not been described previously in pediatric T-ALL, but is recurrent in adults with T-ALL and AML.
|
28905428 |
2017 |
|
rs113488022
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Tumour engraftment permits dynamic imaging of neovascularization, niche partitioning of tumour-propagating cells in embryonal rhabdomyosarcoma, emergence of clonal dominance in T-cell acute lymphoblastic leukaemia and tumour evolution resulting in elevated growth and metastasis in BRAF(V600E)-driven melanoma.
|
26790525 |
2016 |
|
rs121913377
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Tumour engraftment permits dynamic imaging of neovascularization, niche partitioning of tumour-propagating cells in embryonal rhabdomyosarcoma, emergence of clonal dominance in T-cell acute lymphoblastic leukaemia and tumour evolution resulting in elevated growth and metastasis in BRAF(V600E)-driven melanoma.
|
26790525 |
2016 |
|
rs121913529
|
|
|
0.010 |
GeneticVariation |
BEFREE |
KRAS(G12D) T-ALLs do not show constitutive GTP loading of Ras.
|
26549032 |
2016 |
|
rs1490204625
|
|
|
0.010 |
GeneticVariation |
BEFREE |
KRAS(G12D) T-ALLs do not show constitutive GTP loading of Ras.
|
26549032 |
2016 |
|
rs199469667
|
|
|
0.010 |
GeneticVariation |
BEFREE |
U2AF1 p.R35L was shown to induce aberrant splicing of downstream target genes, and shRNA knockdown of MED12 and USP9X was shown to confer resistance to apoptosis following T-ALL relevant chemotherapy drug treatment in Jurkat leukemia cells.
|
27602765 |
2016 |
|
rs199649035
|
|
|
0.010 |
GeneticVariation |
BEFREE |
U2AF1 p.R35L was shown to induce aberrant splicing of downstream target genes, and shRNA knockdown of MED12 and USP9X was shown to confer resistance to apoptosis following T-ALL relevant chemotherapy drug treatment in Jurkat leukemia cells.
|
27602765 |
2016 |
|
rs752021744
|
|
|
0.010 |
GeneticVariation |
BEFREE |
KRAS(G12D) T-ALLs do not show constitutive GTP loading of Ras.
|
26549032 |
2016 |
|
rs1805794
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among the investigated polymorphisms and mutations, NBN Glu185Gln significantly decreased susceptibility to B-cell ALL (p=0.037), while TYMS 3R allele decreased susceptibility to T-cell ALL (p=0.011).
|
25746326 |
2015 |
|
rs2239633
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results demonstrated that rs2239633 A allele was significantly associated with a decreased risk of childhood AL (A vs G: OR=0.87, 95%CI = 0.80, 0.94, p<0.001), especially in B-cell ALL subgroup (A vs G: OR = 0.79, 95%CI = 0.74, 0.83, p<0.001), but not among T-cell ALL or AML subgroups.
|
25938438 |
2015 |
|
rs4958351
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with GRIA1 rs4958351 AA/AG genotype showed significantly reduced risk to ASP hypersensitivity compared to patients with GG genotype in the T-cell ALL subgroup (OR = 0.05 (0.01-0.26); p = 4.70E-04), while no such association was found in pre-B-cell ALL.
|
26457809 |
2015 |
|
rs937736862
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation analysis of the NOTCH1 gene revealed 7213C>T (Q2405X) in exon 34 in T-ALL and LCH cells, but 5156T>C (I1719T) in exon 27 only in T-ALL.
|
25930743 |
2015 |
|
rs2230926
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found one T-ALL case without the above frequent single-nucleotide polymorphisms (SNPs) in which a T to G mutation at position 12486 was found, which results in an amino acid exchange (Phe127Cys; rs2230926).
|
24611736 |
2014 |
|
rs3217927
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A significant difference was found in the genotype distributions of rs3217927 polymorphism between cases and controls (P = 0.019) and homozygous GG genotype may be an increased risk factor for childhood ALL (adjusted OR = 1.84, 95% CI = 1.14 -2.99).
|
24743557 |
2014 |
|
rs661561
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The homozygous form (CC) of rs661561 was detected in all 10 cases with detectable T-ALL, while only 80% (24/30) of the healthy controls had this genotype.
|
24611736 |
2014 |
|
rs121913237
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using a bone marrow transplant model, we previously showed that ∼ 95% of animals receiving Nras G12D/+ bone marrow cells develop chronic myelomonocytic leukemia (CMML), while ∼ 8% of recipients develop acute T-cell lymphoblastic leukemia/lymphoma [TALL] (TALL-het).
|
21586752 |
2011 |
|
rs878853666
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia.
|
17096012 |
2007 |