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Hereditary nonpolyposis colorectal cancer (HNPCC) is a hereditary predisposition to colon cancer.. HNPCC includes (and was once synonymous with) [1] Lynch syndrome, an autosomal dominant genetic condition that is associated with a high risk of colon cancer, endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. [2]
These were called the Amsterdam II clinical criteria for families with Lynch syndrome. [4] [6] Each of the following criteria must be fulfilled: 3 or more relatives with an associated cancer (colorectal cancer, or cancer of the endometrium, small intestine, ureter or renal pelvis); 2 or more successive generations affected;
From early adolescence, patients with this condition gradually (and much of the time asymptomatically) develop hundreds to thousands of colorectal polyps (and sometimes polyps elsewhere)—small abnormalities at the surface of the intestinal tract, especially in the large intestine including the colon or rectum.
Affected individuals have an increased risk of colorectal cancer, precancerous colon polyps and an increased risk of several additional cancers. About 1–2 percent of the population possess a mutated copy of the MUTYH gene, and less than 1 percent of people have the MUTYH-associated polyposis syndrome. The presence of 10 or more colon adenomas ...
Hereditary nonpolyposis colorectal cancer (HNPCC, also known as Lynch syndrome) is a hereditary colorectal cancer syndrome. [9] It is the most common hereditary form of colorectal cancer in the United States and accounts for about 3% of all cases of cancer. [9] It was first recognized by Alder S. Warthin in 1885 at the University of Michigan. [9]
Under the name constitutional mismatch repair-deficiency (CMMR-D), it has been mapped to MLH1, MSH2, MSH6 or PMS2. [2] Monoallelic mutations of these genes are observed in the condition known as Lynch syndrome or hereditary nonpolyposis colorectal cancer, while biallelic mutations are observed in CMMR-D. [3] People expressing the HNPCC (which itself is considered autosomal dominant) trait are ...