Oct 18, 2012

Identification of Lynch syndrome among patients with colorectal cancer

JAMA : the Journal of the American Medical Association
Leticia MoreiraEPICOLON Consortium

Abstract

Lynch syndrome is the most common form of hereditary colorectal cancer (CRC) and is caused by germline mutations in DNA mismatch repair (MMR) genes. Identification of gene carriers currently relies on germline analysis in patients with MMR-deficient tumors, but criteria to select individuals in whom tumor MMR testing should be performed are unclear. To establish a highly sensitive and efficient strategy for the identification of MMR gene mutation carriers among CRC probands. Pooled-data analysis of 4 large cohorts of newly diagnosed CRC probands recruited between 1994 and 2010 (n = 10,206) from the Colon Cancer Family Registry, the EPICOLON project, the Ohio State University, and the University of Helsinki examining personal, tumor-related, and family characteristics, as well as microsatellite instability, tumor MMR immunostaining, and germline MMR mutational status data. Performance characteristics of selected strategies (Bethesda guidelines, Jerusalem recommendations, and those derived from a bivariate/multivariate analysis of variables associated with Lynch syndrome) were compared with tumor MMR testing of all CRC patients (universal screening). Of 10,206 informative, unrelated CRC probands, 312 (3.1%) were MMR gene mutation...Continue Reading

Mentioned in this Paper

DNA Repair Enzymes
Gastroenterology (Field)
Short Tandem Repeat
Germ-Line Mutation
Protein Methylation
Mismatch Repair
Cataract, Autosomal Dominant
Medical Genetics Specialty
Genetic Screening Method
Microsatellite Instability

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