Hereditary nonpolyposis colon cancer: Revised Bethesda criteria, immunohistochemistry, microsatellite instability, germline analysis, and emerging issues in genetic testing

Current Colorectal Cancer Reports 3(1):10-15. DOI: 10.1007/s11888-007-0010-x

ABSTRACT Clinical criteria aid in the decision to pursue genetic testing for suspected cases of hereditary nonpolyposis colon cancer
(HNPCC) and continue to be refined. Sequence analysis offers the greatest opportunity for definitive germline mutation testing;
however, prescreening through microsatellite instability and/or immunohistochemistry offers a cost effective alternative,
and recent studies suggest both are complementary. BRAF mutations and hMLH1 promoter methylation appear to have negative predictive value for identifying individuals with HNPCC, but further studies
are needed. We review strategies for the evaluation of suspected HNPCC, as well as emerging issues in testing.

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    ABSTRACT: Sebaceous lesions are associated with two syndromes with widespread multisystem disorders and tumors. Linear sebaceous nevus syndrome has been traditionally known as the triad of sebaceous nevus of Jadassohn, seizures, and mental retardation. This syndrome encompasses a much broader spectrum of multisystem disorders, which is explored below. Muir-Torre syndrome is described as the presence of sebaceous tumors or keratoacanthomas with an underlying visceral malignancy. It is caused by mutations in DNA mismatch repair genes. We discuss its relationship with Lynch syndrome and suggest a comprehensive algorithm on how to screen patients with sebaceous neoplasms for Muire-Torre syndrome. We also provide suggested intensive cancer screening guidelines based on recommendations for patients with Lynch syndrome that may also be of value for patients with Muir-Torre syndrome.
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