Identification of Lynch syndrome among patients with colorectal cancer.

Publication Type:

Journal Article


JAMA : the journal of the American Medical Association, Volume 308, Issue 15, p.1555-65 (2012)


Adult, Aged, Cohort Studies, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mismatch Repair, DNA Repair Enzymes, FAMILY, Female, Finland, Genetic Testing, Humans, Male, Middle Aged, Multivariate Analysis, November 2012, Ohio, Public Health Sciences Division, Registries, Sensitivity and Specificity


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.