摘要
Familial colorectal cancer constitutes a heterogeneous group of patients in whom the underlying molecular mechanism is still unknown.Predisposition to a such neoplasms in this setting seems to be due to common low-penetrance genetic components,but the role of genetic testing in clinical practice has to be determined.Although screening guidelines in this moderate-risk population are empiric,data obtained in epidemiologic,meta-analyses and cohort studies and,more recently,the increased risk of advanced adenomas in first degree relatives who underwent screening colonoscopy support the need to include these individuals in specific screening programs.However,data to determine what test to use,how often to use and which organizational strategy to implement are needed.At present,screening uptake in this population is less than optimal;offering the opportunity to access to screening and improving screening uptake is a first significant step.
Familial colorectal cancer constitutes a heterogeneous group of patients in whom the underlying molecular mechanism is still unknown. Predisposition to a such neoplasms in this setting seems to be due to common low-penetrance genetic components, but the role of genetic testing in clinical practice has to be determined. Although screening guidelines in this moderate-risk population are empiric, data obtained in epidemiologic, meta-analyses and cohort studies and, more recently, the increased risk of advanced adenomas in first degree relatives who underwent screening colonoscopy support the need to include these individuals in specific screening programs. However, data to determine what test to use, how often to use and which organizational strategy to implement are needed. At present, screening uptake in this population is less than optimal; offering the opportunity to access to screening and improving screening uptake is a first significant step.
