A GUIDE TO GENETIC MUTATIONS
Your doctor may have ordered a DNA sequencing study to identify mutated genes in your MDS cells. This test can help confirm your diagnosis and provide information about which subtype of MDS you have. Some mutated genes are associated with lower risk disease while others may indicate greater risk. Mutations can potentially identify effective therapies to treat your disease.
CHROMOSOME
Chromosomes are structures within cells that contain a person’s genes. Every person has 46 chromosomes. Each chromosome contains thousands of genes.
GENE
Genes, contained in chromosomes, are segments of deoxyribonucleic acid (DNA) that contain the code for making a specific protein that functions in one or more types of cells in the body.
MUTATIONS
Mutations occur when a gene is damaged and alters the genetic message.
COMMONLY MUTATED MDS GENES
SF3B1
IDH1
DNMT3A
TET2
IDH2
TP53
ASXL1
RUNX1
SRSF2
U2AF1
DISCUSS MUTATIONS WITH YOUR DOCTOR
Knowing which genetic mutations are present in your MDS cells will open discussions with your healthcare provider about individualized risk assessment and treatment.
SOME MUTATED GENES IMPACT MDS PROGRESSION
Clinical trials are exploring the potential benefits of targeting genes known to cause and promote MDS. In some cases, the production of abnormal cells can be interrupted.
GENETIC PROFILES CHANGE OVER TIME
Your profile may change over time therefore it is important to re-characterize MDS at points of progression.
HOW ARE MUTATIONS IDENTIFIED
Genetic mutation profiles are identified by sequencing the DNA using a bone marrow or blood sample.