hereditary nonpolyposis colorectal cancer


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hereditary nonpolyposis colorectal cancer

[MIM*114500]
an autosomal dominant predisposition to early-onset colorectal cancer in the absence of adenomatosis. The disease phenotype may be limited to the colorectum (Lynch syndrome I) or coexist with extracolonic tumors such as endometrial or gastric cancer among others (Lynch syndrome II). The genetic basis is in one of several genes responsible for DNA mismatch repair; in over 90% of cases, the mutation is one of two genes: MSH2 and MLH1.

he·red·i·tar·y non·pol·y·po·sis co·lo·rec·tal can·cer

(hĕr-ed'i-tar-ē non'pol-i-pō'sis kō'lŏr-ek'tăl kan'sĕr)
An autosomal dominant predisposition to cancer of the colon and rectum.
References in periodicals archive ?
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer.
A classic example of the MSI etiology is Hereditary Nonpolyposis Colorectal Cancer (HNPCC), in which inherited mutations in the MMR system significantly increase the risk of developing CRC [96].
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and micro-satellite instability.
We report three distinct cases of synchronous RCC and gastrointestinal cancer treated in our institution, specifically synchronous RCC and carcinoid tumor (Case 1), RCC and appendiceal mucinous neoplasm (Case 2), and RCC and hereditary nonpolyposis colorectal cancer (Case 3).
In addition to BRCA, the collaborative terms also give Quest Diagnostics the option to use the platform to accelerate the development of lab-developed tests for other hereditary cancers, such as Lynch syndrome or hereditary nonpolyposis colorectal cancer, as well as spinal muscular atrophy.
Microsatellite instability with mutations in MSH2, MSH6, MLHl, and PMS2 also has been observed in 20% of sporadic endometrial cancers, as well as women with Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome) (J.
Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer.
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC.
Additionally, there are two genetic conditions-familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC)-that lead to colorectal cancer in about five percent of patients.
Gastrointestinal polyposis syndromes and hereditary nonpolyposis colorectal cancer.
Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary bowel cancer.
Patients had to have no prior history of resection, no prior diagnosis of inflammatory bowel disease, and no familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer.

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