Lynch Syndrome: clinical genetic characterization and epidemiology. Clinical case.
Abstract
Abstract
Hereditary non-polyposis colorectal cancer (HNPCC), also called Lynch syndrome, is the most common form of hereditary colorectal cancer (CRC) (1). It is a syndrome with a high genetic load and penetrance, which occurs in the early stages of life, in several family members (2). It is an autosomal dominant disease due to the presence of mutations in DNA repair genes, mainly MSH2 and MLH1, which represent 90% of the total, and with less frequency MSH6 and PMS2 (3). The 80% of colorectal cancers are sporadic, 10% are familiar and the 5-10% is hereditary. We present the case of a man of 35 years, with multiple recurrences and at least two generations affected. The most important aspects about the diagnosis, management and genetic counseling in these cases are discussed.
Key words: Colorectal Neoplasms Hereditary Nonpolyposis, Genetic Load.
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