Pathology and genetics of hereditary colorectal cancer.
Colorectal cancer (CRC) accounts for over 8% of all deaths annually worldwide. Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In addition, serrated polyposis is a clinically defined condition characterised by multiple colorectal serrated polyps and an increased risk of CRC but the genetics are not known. In most hereditary CRC syndromes, polyps undergo carcinogenesis, but the exact route to carcinoma seems to differ between the conditions. Discovery of the key germline mutations in these syndromes has been instrumental to our understanding of the underlying molecular mechanisms of colorectal carcinogenesis. This review summarises the genetic and pathological alterations in hereditary CRC syndromes.
['Ma|Huiying|H|', 'Brosens|Lodewijk A A|LAA|', 'Offerhaus|G Johan A|GJA|', 'Giardiello|Francis M|FM|', 'de Leng|Wendy W J|WWJ|', 'Montgomery|Elizabeth A|EA|']
D011125:Adenomatous Polyposis Coli D003110:Colonic Neoplasms D015179:Colorectal Neoplasms D003123:Colorectal Neoplasms, Hereditary Nonpolyposis D018095:Germ-Line Mutation D006801:Humans D044483:Intestinal Polyposis D009386:Neoplastic Syndromes, Hereditary D010580:Peutz-Jeghers Syndrome
Lynch syndrome familial adenomatous polyposis MUTYH-associated polyposis AFAP CS Cowden syndrome FAP Familial colon cancer JPS LS MAP PJS Peutz–Jeghers syndrome SPS attenuated familial adenomatous polyposis genetic defect hereditary polyposis syndrome juvenile polyposis syndrome serrated polyposis syndrome