Author Affiliations: Gastrointestinal Cancer Prevention Program and Clinical Cancer Genetics Program, Department of Medicine, Stanford University School of Medicine, Stanford, California.
Identification of individuals at increased risk of hereditary cancer allows for the possibility of screening and early cancer detection, possibly resulting in decreased disease-specific mortality, and is the justification for germline genetic testing for specific cancer risk alleles. However, factors of prevalence and age-specific penetrance, effectiveness and invasiveness of screening procedures, and efficacy of early detection influence the potential benefit of such an approach.
Ladabaum U, Ford JM. Lynch Syndrome in Patients With Colorectal CancerFinding the Needle in the Haystack. JAMA. 2012;308(15):1581-1583. doi:10.1001/jama.2012.14171