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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]
The Amsterdam criteria are a set of diagnostic criteria used by doctors to help identify families which are likely to have Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC). [1] [2] [3] [4]
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 ...
Muir–Torre syndrome is a rare hereditary, autosomal dominant cancer syndrome [1]: 663 that is thought to be a subtype of HNPCC (Lynch syndrome). Individuals are prone to develop cancers of the colon, genitourinary tract, and skin lesions, such as keratoacanthomas and sebaceous tumors.
Hereditary nonpolyposis colorectal cancer (HNPCC), sometimes referred to as Lynch syndrome, is inherited in an autosomal dominant fashion, where inheritance of only one copy of a mutated mismatch repair gene is enough to cause disease phenotype.
The most common of these is hereditary nonpolyposis colorectal cancer (HNPCC, or Lynch syndrome) which is present in about 3% of people with colorectal cancer. [20] Other syndromes that are strongly associated with colorectal cancer include Gardner syndrome and familial adenomatous polyposis (FAP). [36]
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His best-known example, hereditary nonpolyposis colorectal cancer, is the most common form of hereditary colorectal cancer and is generally known as Lynch syndrome. He demonstrated the Mendelian inheritance pattern for certain breast and ovarian cancers, which laid the groundwork for the identification of specific genes responsible for these ...