Journal
JOURNAL OF GENETIC COUNSELING
Volume 20, Issue 1, Pages 5-19Publisher
WILEY
DOI: 10.1007/s10897-010-9325-x
Keywords
Genetic testing; Hereditary colorectal cancer; Hereditary nonpolyposis colorectal cancer; HNPCC; Immunohistochemistry; Lynch syndrome; Microsatellite instability; Risk assessment; Tumor studies
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Lynch syndrome is the most common hereditary colorectal cancer syndrome and the most common cause of hereditary endometrial cancer. Identifying and evaluating families for Lynch syndrome is increasing in complexity due to the recognition that: family history-based clinical criteria lack sensitivity and specificity; genetic testing for Lynch syndrome continues to evolve as understanding of the molecular mechanisms underlying it evolves; and the Lynch syndrome phenotype encompasses multiple organ systems and demonstrates overlap with other hereditary cancer syndromes. This document is a summary of considerations when evaluating individuals and families for Lynch syndrome, including information on cancer risks, diagnostic criteria, tumor and genetic testing strategies, and the management of individuals with this condition.
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