HNPCC (Lynch Syndrome): Differential Diagnosis, Molecular Genetics and Management - a Review

HNPCC (Lynch syndrome) is the most common form of hereditary colorectal cancer (CRC), wherein it accounts for between 2-7 percent of the total CRC burden. When considering the large number of extracolonic cancers integral to the syndrome, namely carcinoma of the endometrium, ovary, stomach, hepatobiliary system, pancreas, small bowel, brain tumors, and upper uroepithelial tract, these estimates of its frequency are likely to be conservative. Tthe diagnosis is based upon its natural history in concert with a comprehensive cancer family history inclusive of all anatomic sites. In order for surveillance and management to be effective and, indeed, lifesaving, among these high-risk patients, the linchpin to cancer control would be the physician, who must be knowledgeable about hereditary cancer syndromes, their molecular and medical genetics, genetic counseling, and, most importantly, the natural history of the disorders, so that the entirety of this knowledge can be melded to highly-targeted management. HNPCC (Lynch Syndrome): Differential Diagnosis, Molecular Genetics and Management – a Review Henry T. Lynch, Jane F. Lynch, Trudy G. Shaw, Jan Lubiñski Department of Preventive Medicine and Public Health, 2500 California Plaza, Omaha NE 68178, USA; International Hereditary Cancer Center, ul. Po3abska 4, 70115 Szczecin, Poland