"Most are fundic gland polyps; histologic features include cystic dilatation and irregular budding of the fundic gland. Up to 25% show foveolar epithelial dysplasia, but cancer is rare . Gastric adenomas are also found, limited to the antrum and occurring in smaller numbers and at lesser frequency than fundic gland polyps . "
[Show abstract][Hide abstract] ABSTRACT: Familial colorectal cancer (CRC) accounts for 10% to 20% of all cases of CRC. Two major autosomal dominant forms of heritable CRC are familial adenomatous polyposis (FAP) and Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer). Along with the risk for CRC, both syndromes are associated with elevated risk for other tumors. Improved understanding of the genetic basis of these diseases has not only facilitated the identification and screening of at-risk individuals and the development of prophylactic or early-stage intervention strategies but also provided better insight into sporadic CRC. This article reviews the clinical and genetic characteristics of FAP and Lynch syndrome, recommended screening and surveillance practices, and appropriate surgical and nonsurgical interventions.
Surgical Clinics of North America 09/2008; 88(4):819-44, vii. DOI:10.1016/j.suc.2008.04.012 · 1.88 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The genetic pathogenesis of colorectal cancer is now well understood: it is a multistep process that causes a normal cell to acquire features of adenomatous change and, finally, malignancy as mutations in specific genes accumulate. Stool tests for identifying the presence of these mutations are now available as a colorectal cancer screening tool but are not widely used. Inheritance is an important factor in up to one third of colorectal cancer cases. The genetic etiol-ogy for most of these cases is not yet known, and screening is based upon the severity of familial risk. A small fraction of colorectal cancer cases belong to one of the single gene inherited syndromes with high colorectal cancer risks. The most important of these syndromes are familial adenomatous polyposis, which arises from inherited mutations of the adenomatosis polyposis coli gene, and hereditary nonpolyposis colorectal cancer (or Lynch syndrome), which occurs when one of the mismatch repair genes is inherited with a mutation. There are also several hamartomatous polyposis syndromes associ-ated with colorectal and other cancers. The genetic etiology of these syndromes is now also known. Genetic testing is available for the diagnosis of each of the inherited syndromes, and surveillance and management guidelines have been given. C olorectal cancer (CRC) is the second most common cause of cancer-related mortality in the United States, with 149,000 new cases and 77,000 deaths annually. The life-time risk for CRC is approximately 6% in both men and women. 1 The causes of CRC include environmental and inherited factors and a combination of each. Approximately one third of CRCs arise from inheritable factors, and up to 3% belong to one of the well-characterized inherited syndromes. The genetics of these syndromes are now well understood and have helped to define the pathogenesis of all CRCs. This understanding has, in turn, provided stool tests for the diagnosis of CRC and genetic tests for diagnosis of the syndromes and is expected to lead to better preventive and therapeutic approaches to this malignancy.
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