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Screening for colorectal cancer in patients with a family history of colorectal cancer

Scott D Ramsey, MD
Section Editors
J Thomas Lamont, MD
Joann G Elmore, MD, MPH
Deputy Editor
H Nancy Sokol, MD


Colorectal cancer results from both genetic and environmental factors and their interaction. Genetic predisposition is the dominant risk factor for a small proportion of individuals; however, environmental factors (including diet, exercise, smoking, and obesity) are stronger risk factors in most people [1,2]. A family history of colorectal cancer is common among the general population. In the United States, about 5 percent of adults (aged 20 to 79 years) report having a first or second-degree relative with colorectal cancer [3]; other countries have reported rates that are somewhat higher, with one study from the Netherlands reporting that 11.7 percent of adults aged 30 to 70 years had at least one first-degree relative with colorectal cancer [4]. This rate increases with age, reflecting the increasing chance that relatives will develop colorectal cancer as they get older.

One in four patients with colorectal cancer are at moderately increased risk because of a family history [5]. Approximately 3 to 4 percent of patients with newly-diagnosed colorectal cancer have very high risk due to a cancer susceptibility syndrome caused by one of two autosomal dominant, highly penetrant genetic mutations:

Hereditary nonpolyposis colon cancer (HNPCC), also known commonly as Lynch syndrome, accounts for about 2 to 6 percent of colorectal cancers and an increased risk of other cancers as well [6]. (See "Lynch syndrome (hereditary nonpolyposis colorectal cancer): Clinical manifestations and diagnosis".)

Familial adenomatous polyposis (FAP) accounts for less than 1 percent of colorectal cancers; cancers are preceded by hundreds of polyps throughout the colon. (See "Clinical manifestations and diagnosis of familial adenomatous polyposis".)

Less frequent hereditary syndromes with increased risk for colorectal cancer include MUTYH-associated polyposis (MAP), attenuated familial adenomatous polyposis (AFAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, and serrated (hyperplastic) polyposis syndrome. It is likely that the remainder of the heritable risk for colorectal cancers, usually called "familial" or "nonsyndromic familial" colorectal cancer, results from one or more genetic polymorphisms with a higher prevalence, but lower penetrance, than genes for HNPCC or FAP. The interaction of these polymorphisms with environmental carcinogens is hypothesized to lead to colorectal cancer. After genetic and environmental factors, another important nongenetic risk for colorectal cancer is inflammatory bowel disease. (See "Colorectal cancer: Epidemiology, risk factors, and protective factors".)


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Literature review current through: Sep 2016. | This topic last updated: May 10, 2016.
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