
Decoding the Genetic Mysteries: Breast and Ovarian Cancer Susceptibility
Mutations in BRCA1 and BRCA2 raise the chance of breast and ovarian cancer without making it certain; results can shape screening, preventive surgery and family talks.

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.

Mutations in BRCA1 and BRCA2 raise the chance of breast and ovarian cancer without making it certain; results can shape screening, preventive surgery and family talks.

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Joint contractures and skeletal muscle weakness without significant cardiac involvement mark CAP-CAMC, and next-generation sequencing helps confirm the diagnosis.

Reduced calpain-3 activity leads to weakness and wasting in the shoulder and pelvic girdle; diagnostic, carrier, prenatal and preimplantation testing are described.

Genes shape how the heart and blood vessels form. Williams-Beuren syndrome, nonsyndromic SVAS and Hutchinson-Gilford Progeria are explained, plus genetic modifiers.

Cadherin-23 builds the hair cell bundles of the inner ear, so CDH23 mutations can cause Usher Syndrome type 1D or nonsyndromic hearing loss and balance problems.

Centrosome problems from CEP152 mutations underlie Seckel syndrome, microcephalic primordial dwarfism and Meier-Gorlin syndrome, which exome sequencing can confirm.