Condition: MYELODYSPLASTIC SYNDROME


rs147001633 in DNMT3A gene and MYELODYSPLASTIC SYNDROME PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs387906631 in GATA2 gene and MYELODYSPLASTIC SYNDROME PMID 21892162 2011 We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family.

rs104894230 in HRAS;LRRC56 gene and MYELODYSPLASTIC SYNDROME PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913499 in IDH1 gene and MYELODYSPLASTIC SYNDROME PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121913502 in IDH2 gene and MYELODYSPLASTIC SYNDROME PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs104894229 in LRRC56;HRAS gene and MYELODYSPLASTIC SYNDROME PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121434595 in NRAS gene and MYELODYSPLASTIC SYNDROME PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs267607040 in SETBP1 gene and MYELODYSPLASTIC SYNDROME PMID 23648668 2013 SETBP1 mutation analysis in 944 patients with MDS and AML.

PMID 23889083 2013 Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.

rs1057519960 in SF3B2 gene and MYELODYSPLASTIC SYNDROME PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs11540652 in TP53 gene and MYELODYSPLASTIC SYNDROME PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs371246226 in U2AF1 gene and MYELODYSPLASTIC SYNDROME PMID 22158538 2011 Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes.

PMID 25311244 2015 We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo myelodysplastic syndrome (MDS).

PMID 23861105 2013 Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.