TABLE 2
FROM:
Value of MLH1 and MSH2 Mutations in the Appearance of Muir–Torre Syndrome Phenotype in HNPCC Patients Presenting Sebaceous Gland Tumors or Keratoacanthomas
Giovanni Ponti, Lorena Losi, Monica Pedroni, Emanuela Lucci-Cordisco, Carmela Di Gregorio, Giovanni Pellacani and Stefania Seidenari
BACK TO ARTICLETable 2. Biomolecular features of MTS patients identified among HNPCC families
| Case | Sex | MSI | IHC | Mutation analysis |
|---|---|---|---|---|
| 1 | F | H-MSI | Lack of expression of MSH2/MSH6 | del TT at 880 exo 5 of hMSH2 |
| 2 | M | H-MSI | Lack of expression of MSH2/MSH6 | Large deletion exo 1 of hMSH2 |
| 3 | M | H-MSI | Lack of expression of MSH2/MSH6 | Not tested (proband deceased) |
| 4 | F | H-MSI | Lack of expression of MLH1 | ins T 2269–2270 of hMLH1 |
| 5 | F | H-MSI | Lack of expression of MLH1 | c.1520–1521 ins T of hMLH1 |
F, female; HNPCC, hereditary non-polyposis colorectal cancer; IHC, immunohistochemistry; M, male; MSI, microsatellite instability; MTS, Muir–Torre syndrome.
