Optimizing the detection of hereditary non-polyposis colorectal cancer: an update.
until further notice
SourceScandinavian Journal of Gastroenterology, 41, 243, (2006), pp. 146-152
Article / Letter to editor
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Epidemiology, Biostatistics & HTA
Scandinavian Journal of Gastroenterology
SubjectEBP 2: Effective Hospital Care; IGMD 2: Molecular gastro-enterology and hepatology; IGMD 3: Genomic disorders and inherited multi-system disorders; NCEBP 1: Molecular epidemiology; NCEBP 2: Evaluation of complex medical interventions; NCMLS 3: Growth and differentiation; NCMLS 6: Genetics and epigenetic pathways of disease; ONCOL 1: Hereditary cancer and cancer-related syndromes; ONCOL 2: Age-related aspects of cancer; ONCOL 3: Translational research; ONCOL 4: Quality of Care; ONCOL 5: Aetiology, screening and detection; UMCN 1.2: Molecular diagnosis, prognosis and monitoring; NCMLS 3: Growth and differentiation
Hereditary non-polyposis colorectal cancer (HNPCC) is a dominant inherited disease and accounts for up to 5% of all colorectal cancer (CRC) patients. Despite the optimization of selection criteria and enhancements in molecular techniques for identifying more families with HNPCC, most cases are not recognized. Poor patient recollection of family history and inadequate family history-taking are main causative factors. We propose a new strategy for detecting HNPCC, one in which the pathologist selects patients for microsatellite instability (MSI) testing. Criteria for MSI analysis are: (1) CRC before the age of 50 years, (2) second CRC before 70 years, (3) CRC and HNPCC-associated cancer before 70 years, or (4) adenoma before 40 years. Additionally, patients with a positive MSI test and patients with a positive family history are offered referral for genetic counselling. With this strategy, at least twice the number of HNPCC patients will be identified among a population of CRC patients, and in a cost-effective, efficient and feasible way. The identification of patients with HNPCC is important because intensive surveillance can prevent death from CRC.
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