The genetic basis of Lynch syndrome and its implications for clinical practice and risk management
Stephanie A Cohen,1 Anna Leininger2
1Cancer Genetics Risk Assessment Program, St Vincent Health, Indianapolis, IN, USA; 2Minnesota Oncology, Woodbury, MN, USA
Abstract: Lynch syndrome is the most common cause of hereditary colon cancer, and accounts for as much as 3% of all colon and endometrial cancers. The identification and management of individuals with Lynch syndrome have evolved over the past 20 years, yet the syndrome remains vastly underdiagnosed. It is important for clinicians to recognize individuals and families who are at risk in order to be able to manage them appropriately and reduce their morbidity and mortality from this condition. This review will touch on the history of Lynch syndrome, the current knowledge of genotype–phenotype correlations, the cancers associated with Lynch syndrome, and management of individuals who are gene carriers.
Keywords: Lynch syndrome, hereditary cancer, hereditary nonpolyposis colorectal cancer, mismatch repair, mismatch repair genes, immunohistochemistry, microsatellite instability
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