JUL 10, 2018 09:00 PM PDT

Risk Allele Variant SNP at 14q11.2 Linked to ALL

WRITTEN BY: Mauri Brueggeman
2 2 46

Acute Lymphoblastic Leukemia, or ALL, is a B-cell disorder that affects pediatric patients and is the most common childhood cancer diagnosed.  Patients with this diagnosis produce too many immature B-cells; a process driven by genetic mutations or predisposing factors.  It is well established that around 60% of ALL diagnoses are found to have the presence of a translocation between chromosomes 12 and 21, which produces the commonly characterized chimeric ETV6-RUNX1 protein. Another genetic change occurs in a smaller percentage of patients that involves a translocation of chromosomes 5 and 14, which affect genes in the immunoglobulin heavy chain and interleukin-3. 

A new study just published July 6, 2018 in the journal Leukemia examined ALL and genetic risk factors, specifically locations of genetic variants and their potential association with the disease.  The authors of the study utilized genome-wide association studies (GWAS) to identify 11 specific loci linked to ALL.  The loci are all located in proximity to B-cell development genes.  The authors of the study identified an at-risk locus at 14q11.2, which encodes a gene called CCAAT enhancer-binding protein epsilon (CEBPE).  The CEBPE protein produced regulates a distinct pattern of nucleotides (CCAAT) that act as a promoter region for other genes. When the protein is upregulated, as in ALL, the promoter region is turned on and continues to promote early B-cell proliferation which becomes uncontrolled.  There is a specific single nucleotide polymorphism identified that enhances that CEBPE promoter region.  The variant, rs2239630, has an adenine inserted where a guanine should be.  This 14q11.2 SNP risk allele affects granulocyte differentiation and myelopoetic defects.  Ultimately, CEPBE differential expression may provide a basis for the 14q11.2 risk connected with ALL. 

Scientific advances is sequencing genes could provide an opportunity to better predict and monitor potential patients who carry the variant allele associated in this case.  Early diagnosis and treatment is key for children with ALL.

Sources: Leukemia, National Cancer Institute, NCBI dbSNP, Leukemia & Lymphoma Society, Hematology/Oncology Clinics of North America,

About the Author
  • Mauri S. Brueggeman is a Medical Laboratory Scientist and Educator with a background in Cytogenetics and a Masters in Education from the University of Minnesota. She has worked in the clinical laboratory, taught at the University of Minnesota, and been in post secondary healthcare education administration. She is passionate about advances and leadership in science, medicine, and education.
You May Also Like
APR 03, 2018
Drug Discovery
APR 03, 2018
Two-Drug Strategy for Non-Small Cell Lung Cancer (NSCLC)
According to the National Cancer Institute, lung cancer is the most common cause of cancer death for both men and women in the U.S. More specifically, non-
APR 08, 2018
Genetics & Genomics
APR 08, 2018
Free Tool Identifies Rare Cancer Mutations Accurately
Researchers can now use open-source software to identify rare genetic mutations in cancer cells with greater accuracy than existing techniques.
MAY 26, 2018
Clinical & Molecular DX
MAY 26, 2018
Calculate Your Risk For Lung Cancer
A new tool may help reduce the use of CT scans in lung cancer detection, which can cause harm.
JUN 07, 2018
Clinical & Molecular DX
JUN 07, 2018
Digital Screening Vital for Detecting Breast Cancer
A combination of two digital techniques could be the best way to diagnose breast cancer. In a new study, scientists show how combining a technique called t
JUN 27, 2018
Cancer
JUN 27, 2018
Engineered Poliovirus in Clinical Trials for Glioblastoma
Glioblastoma is a very difficult cancer to treat; researchers look to an engineered poliovirus for novel targeted approach for grade IV patients.
JUL 22, 2018
Cell & Molecular Biology
JUL 22, 2018
Using Nanosubmarines to Fight Tumors and Headaches
Researchers are getting closer to creating targeted therapies that are delivered directly where needed.
Loading Comments...