Publications and Presentations

Extraordinary Opportunities for Early Cancer Detection and Risk Assessment Research

Genotypic-Phenotypic Correlative Studies

The CBRG is a co-sponsor of the Cooperative Family Registry for Colon Cancer, established to support genotypic-phenotpic-correlative studies. The necessity for elucidating the relationship between genotype and phenotype is becoming particularly important when detection methods uncover changes in the genomic DNA without knowing if the changes are causing changes in the phenotype or if the phenotype has an association with clinical outcome. This is particularly important when selecting a biomarker for detection/screening purposes. For example, a protein may be altogether absent due to mutations leading to truncated mRNA, or due to complete or partial deletion of the gene. If one of preceding conditions exists, one can then develop an assay to measure the product in tissues or body fluids. Population-based studies are also necessary to distinguish biologically important germline mutations from polymorphism without functional consequences.

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