
Genetic Insights into Glioma Susceptibility 2: Unlocking the Code to Better Outcomes
Variants in the MAML2 gene have been linked to glioma risk and survival in a Chinese Han population, informing surveillance and treatment choices.

MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.

Variants in the MAML2 gene have been linked to glioma risk and survival in a Chinese Han population, informing surveillance and treatment choices.

A genome-wide association study tied a SNP in the CYP4F12 gene to higher glioma risk in the Han Chinese population, with imaging surveillance options outlined.

An MGMT enhancer variant, rs10764901, has been linked to reduced glioma risk by altering transcription factor binding, which helps stratify patients by risk level.

Testing a patient's DNA for PHKG2 changes confirms GSD IXc and sets it apart from other glycogen storage diseases that share hepatomegaly and muscle weakness.

Inherited in an autosomal recessive pattern, HJV variants drive early iron loading that can scar the liver; relatives can be screened and phlebotomy started sooner.

Low enzyme activity starves red cells of energy so they break down early, bringing fatigue, pallor, jaundice and an enlarged spleen, with transfusion as supportive care.

SERPINC1 mutations reduce or disable antithrombin, and hereditary antithrombin deficiency raises the risk of deep vein thrombosis and pulmonary embolism.

Sparse scalp, eyebrow and eyelash hair with recurring fluid-filled blisters marks HHRV, an ectodermal dysplasia that genetic testing separates from similar disorders.