Lynch Syndrome 8: Unraveling the Genetic Threads of a Hereditary Cancer Syndrome
Impaired DNA mismatch repair drives early cancer risk in LS8, with SVA retrotransposon insertion one reported mechanism; relatives can then be tested and monitored.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
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).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, 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.
Articles by Brandon
Maturity-Onset Diabetes of the Young Type 10: Unlocking the Genetic Code
Mutations in the insulin gene INS set MODY10 apart from type 1 and type 2 diabetes, and identifying them can point to sulfonylureas instead of insulin injections.
MODY 11: Genetic Diagnosis and Metformin Treatment
A single-gene change reduces the pancreas's insulin output in MODY 11; confirming it avoids a type 1 or type 2 misdiagnosis and guides metformin and lifestyle steps.
Inherited Melanoma Risk: Susceptibility Type 5 Testing
An inherited predisposition to melanoma sits behind this entry, with gene testing used to flag high-risk families for closer surveillance and targeted therapy.
Metaphyseal Anadysplasia 2: Unraveling the Genetic Code for Better Diagnosis and Management
Irregular growth at the metaphysis can cause bone pain and deformities. Genetic testing for metaphyseal anadysplasia 2 supports earlier diagnosis and therapy choices.
Microcephaly, Seizures, and Developmental Delay: Unraveling the Genetic Threads
An Argentine study during the Zika outbreak found genetic disease, not infection, behind most microcephaly cases; DNA testing can name the mutation and guide care.
Miyoshi Muscular Dystrophy 3: Genetic Testing as a Beacon of Hope
Progressive weakness in the distal muscles of the lower limbs marks MMD3, which is often linked to CHKB gene mutations that disrupt lipid metabolism in muscle cells.
Mastering the Mysteries of Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A2
Defective glycosylation of alpha-dystroglycan drives type A2, and finding a POMT1 mutation separates it from other neuromuscular disorders with similar symptoms.