Breast Cancer Protection: Risk Genes and Variants
Beyond BRCA1 and BRCA2, genes such as ATM, PALB2 and CHEK2 shape inherited breast cancer risk, while variants including BCRP Q141K are described as protective.
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
British HPFH: HBG Gene Mutations and Fetal Hemoglobin
Fetal hemoglobin production continues into adulthood when the HBG genes carry certain mutations; DNA sequencing confirms it and flags links to sickle cell disease.
Decoding the Mystery of Type I C2 Deficiency: Understanding, Diagnosing, and Using Genetic Testing
A 28-base pair deletion linked to a specific HLA haplotype causes this complement defect, which brings recurrent bacterial infections and a higher chance of lupus.
Unraveling the Mysteries of Type II C2 Deficiency: A Deeper Look into Genetic Testing
Absent or dysfunctional C2 protein weakens the complement response, and a mutation reported in an African-American family shows what sequencing adds to diagnosis.
Decoding the Mysteries of Combined Subtotal C6 and C7 Deficiency
Lacking both C6 and C7 proteins leaves the complement system unable to clear bacteria, and sequencing pinpoints mutations reported in exons 10 and 11 of the C7 gene.
Decoding the Genetics of Cerebral Infarction Susceptibility
Ischemic stroke risk has been tied to novel SNPs in a Japanese population and to IL-6 gene polymorphism, which testing can use for early detection and family screening.
Decoding the Enigma of Protracted Neuronal Ceroid Lipofuscinosis
Mutations in MFSD8, CLN3 and TPP1 lead to lipofuscin buildup, progressive vision loss, seizures and motor decline; testing also covers carrier and prenatal options.
Charcot-Marie-Tooth Type 1A: PMP22 and Carrier Tests
PMP22 gene mutations disturb the protein peripheral nerves need, and testing for them supports diagnosis, carrier screening and prenatal testing in CMT type 1A.