Lynch Syndrome: History and Current Status

The annual worldwide incidence of colorectal cancer (CRC) is 944,717 with a mortality of 492,411 [1]. Approximately 5% to 10% of this total CRC burden is due to primary Mendelian inheritance factors, making hereditary CRC a major public health problem throughout the world. These estimates of the hereditary burden of CRC may be conservative when considering the existence of low-penetrant genes such as the Ashkenazi I1307K mutation [2], the recently described autosomal recessive form of familial adenomatous polyposis (FAP)-like families due to the MYH mutation [3, 4], and the hereditary breast and colon cancer (HBCC) syndrome [5,6]. Understanding the role of genetics in the etiology of CRC has increased rapidly during the past decade, due to the prodigious advances in molecular genetics [7]. Indeed, this information has evolved so rapidly that it has outpaced the ability of physicians to keep abreast of these fast-breaking events.