1q21/1p21 in the Evaluation of Patients with Multiple Myeloma

The hallmark of Lynch Syndrome is a germ line mutation in one of the enzymes involved in DNA mismatch repair (MMR). The diagnosis of Lynch Syndrome is of particular relevance in colorectal and endometrial cancer cases, and several testing modalities including IHC, PCR, methylation studies, and genetic sequence analysis are used for its evaluation. As many sporadic cancers exhibit MMR deficiency, the goal of current testing algorithms is to identify such patients so that genetic sequence testing is performed only when Lynch Syndrome remains a reasonable possibility.