Camptothecin-Resistant DNA Topoisomerase I: Testing
Tumor cells that stop responding to camptothecin often carry mutations in the DNA topoisomerase I gene or make less of the enzyme; Genz-644282 is one alternative.
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
DNA Topoisomerase II Resistance to Amsacrine: Tests
Amsacrine works by inhibiting DNA topoisomerase II, and some cells stop responding; DNA sequencing and gene expression profiling can reveal the mutations behind it.
Decoding Dysequilibrium Syndrome: The Power of Genetic Testing
Poor coordination and balance in children, often with cerebellar hypoplasia, follow autosomal recessive changes in genes such as VLDLR, CA8 and ATP8A2.
Decoding the Mysteries of Mitochondrial Dystonia: A Comprehensive Guide to Genetic Testing and Diagnosis
Faults in genes that run the mitochondria can produce dystonia with deafness or striatal necrosis; exome sequencing, gene panels and mtDNA testing are compared.
Unlocking the Mysteries of Familial Progressive Necrotizing Encephalopathy: Diagnosis and Genetic Testing
Seizures, loss of motor skills and cognitive decline follow inflammation and degeneration of brain tissue; RANBP2 and SERPINI1 variants turned up in case reports.
Epidermal Nevus with Urothelial Cancer: KRAS Mutations
A KRAS mutation in the epidermis underlies epidermal nevus with urothelial cancer, a rare somatic disorder also linked to rhabdomyosarcoma and polycystic kidneys.
Pretibial Epidermolysis Bullosa: Genes and Carrier Tests
Both parents must carry a mutation for AR-PEB, which blisters the front of the lower leg; COL7A1, COL17A1, PLEC and ITGB4 findings and carrier testing are reviewed.
Decoding Esophageal Carcinoma: Understanding, Diagnosing, and Utilizing Genetic Testing
Gene expression profiling splits ESCC into three subtypes, while an MCM10 germline variant and markers of immunity, DNA repair and inflammation inform prognosis.