Article
Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patients.
Human mutation - 1 Mar 2015
Joly Marie-Odile, Attignon Valéry, Saurin Jean-Christophe, Desseigne Françoise, Leroux Dominique, Martin-Denavit Tanguy, Giraud Sophie, Bonnet-Dupeyron Marie-Noëlle, Faivre Laurence, Auclair Jessie, Grand-Masson Chloé, Audoynaud Carole, Wang Qing
Abstract excerpt
Sebaceous neoplasms are a major clinical feature of Muir-Torre syndrome (MTS) associated with visceral malignancies, especially colorectal and endometrial tumors. The diagnosis of MTS relies largely on the microsatellite instability (MSI) phenotype in tumors, suggesting germline mutations in DNA mismatch repair (MMR) genes responsible for the inherited disease. We hypothesized that in some MSI-H sebaceous tumors,...
Topics
- DNA Mismatch Repair
- DNA-Binding Proteins
- High-Throughput Nucleotide Sequencing
- Humans
- Muir-Torre Syndrome
- Mutation
- Sebaceous Gland Neoplasms
- Sequence Analysis, DNA