title: Tissue and tumor mosaicism of the myotonin protein kinase gene trinucleotide repeat in a patient with multiple basal cell carcinomas associated with myotonic dystrophy.
abstract: We describe the third case (to our knowledge) of multiple basal cell carcinoma associated with myotonic dystrophy and carry out a genetic study of the tumor comparing it with healthy skin. We consider that our results show that this association might be not a purely random phenomenon and that the particular genetic characteristics of this disorder might have a role in the pathogenesis of the tumor.
authors.affiliation: Department of Dermatology, Alicante General Hospital, Maestro Alonso 109, Alicante 03010, Spain.
authors.forename: José
authors.initials: J
authors.lastname: Bañuls
authors.forename: Rafael
authors.initials: R
authors.lastname: Botella
authors.forename: Francesc
authors.initials: F
authors.lastname: Palau
authors.forename: Regina
authors.initials: R
authors.lastname: Ramón
authors.forename: Carmina
authors.initials: C
authors.lastname: Díaz
authors.forename: Artemio
authors.initials: A
authors.lastname: Payá
authors.forename: Lucía
authors.initials: L
authors.lastname: Carnero
authors.forename: Gloria
authors.initials: G
authors.lastname: Vergara
mesh_terms: D000328:Adult; D002280:Basal Cell Carcinoma / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005143:Eyelids; D005145:Face; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009030:Mosaicism / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000150:complications / Q000235:genetics*; D016609:Neoplasms, Second Primary / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D011494:Protein Kinases / Q000235:genetics; D012878:Skin Neoplasms / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D013909:Thorax; D019680:Trinucleotide Repeat Expansion
chemical_list: D011494:Protein Kinases