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Hereditary non-polyposis colorectal cancer (HNPCC): phenotype–genotype correlation between patients with and without identified mutation by Marie Luise Bisgaard; Anne Charlotte Jäger; Torben Myrhøj; Inge Bernstein; Finn Cilius Nielsen is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Hereditary non-polyposis colorectal cancer (HNPCC): phenotype–genotype correlation between patients with and without identified mutation about?

Affected members of hereditary non-polyposis colorectal cancer (HNPCC) families develop colorectal cancer at an early age (mean 45 yr) and frequently get extracolonic cancers particularly in the uterus, urinary tract, and small intestine. They have a high risk of developing more than one primary colorectal cancer if not treated with subtotal colectomy at first operation and have more frequent right-sided colon cancers and less frequent rectum cancers, compared to patients with sporadic colorectal cancer. We have screened 31 families fulfilling the Amsterdam criteria and 54 families with a colorectal cancer clustering but not fulfilling the Amsterdam criteria for mutations in MLH1 and MSH2 by direct sequencing, and detected a mutation in 61% of the Amsterdam positive families but only in 15% of the Amsterdam negative families. Genotype-phenotype correlation was compared between 141 affected individuals with an identified mutation and 78 affected individuals from Amsterdam positive families in which a mutation was not identifiable in MLH1 or MSH2. In the affected persons with identified mutations, all expected phenotypic traits were represented, whereas affected persons in whom no mu

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Author

Marie Luise Bisgaard; Anne Charlotte Jäger; Torben Myrhøj; Inge Bernstein; Finn Cilius Nielsen

Publisher

Hindawi Limited

Published

2002

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)