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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]
Polymerase proofreading-associated polyposis (PPAP) is an autosomal dominant hereditary cancer syndrome, which is characterized by numerous polyps in the colon and an increased risk of colorectal cancer. [1] It is caused by germline mutations in DNA polymerase ε and δ . [1]
The disorder is caused by mutations in both alleles (genetic copies) of the DNA repair gene, MUTYH. The MUTYH gene encodes a base excision repair protein, which corrects oxidative damage to DNA. Affected individuals have an increased risk of colorectal cancer , precancerous colon polyps ( adenomas ) and an increased risk of several additional ...
Individuals at risk (due to family links or genetic testing) are usually offered routine monitoring of the intestinal tract every 1–3 years for life, from puberty for FAP and early adulthood for attenuated forms. Colon resection surgery is recommended if numerous colon polyps are found due to high risk of early death from colon cancer.
Gardner's syndrome (also known as Gardner syndrome, familial polyposis of the colon, [1] or familial colorectal polyposis [2]) is a subtype of familial adenomatous polyposis (FAP). Gardner syndrome is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. [ 3 ]
The signs and symptoms of colorectal cancer depend on the location of the tumor in the bowel, and whether it has spread elsewhere in the body ().The classic warning signs include: worsening constipation, blood in the stool, decrease in stool caliber (thickness), loss of appetite, loss of weight, and nausea or vomiting in someone over 50 years old. [15]
The Amsterdam criteria arose as a result of a meeting of the International Collaborative Group on Hereditary Non-Polyposis Colon Cancer in Amsterdam, in 1990. [5] Following this, some of the genetic mechanisms underlying Lynch syndrome were elucidated during the 1990s and the significance of tumours outside the colon , such as those of the ...
The most common form of colon cancer is adenocarcinoma, constituting between 95% [2] and 98% [3] of all cases of colorectal cancer. Other, rarer types include lymphoma, adenosquamous and squamous cell carcinoma. Some subtypes have been found to be more aggressive. [4]
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