title: Germline Mutations in MLH1 Leading to Isolated Loss of PMS2 Expression in Lynch Syndrome: Implications for Diagnostics in the Clinic.
authors.affiliation: *Laboratory of Genomics and Molecular Biology, International Research Center/CIPE †Anatomic Pathology Department ‡Colorectal Tumors Department, AC Camargo Cancer Center §National Institute of Science and Technology in Oncogenomics (INCITO) São Paulo, Brazil.
authors.forename: Felipe C C
authors.initials: FCC
authors.lastname: Silva
authors.forename: Giovana Tardin
authors.initials: GT
authors.lastname: Torrezan
authors.forename: Jose R O
authors.initials: JRO
authors.lastname: Ferreira
authors.forename: Ligia P
authors.initials: LP
authors.lastname: Oliveira
authors.forename: Maria D F S
authors.initials: MDFS
authors.lastname: Begnami
authors.forename: Samuel
authors.initials: S
authors.lastname: Aguiar
authors.forename: Dirce M
authors.initials: DM
authors.lastname: Carraro
mesh_terms: D014408:Biomarkers, Tumor / Q000235:genetics* / Q000378:metabolism; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*; D004252:DNA Mutational Analysis; D015971:Gene Expression Regulation, Enzymologic; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry; D000070976:Mismatch Repair Endonuclease PMS2 / Q000235:genetics* / Q000378:metabolism; D000070957:MutL Protein Homolog 1 / Q000235:genetics*; D010641:Phenotype; D011237:Predictive Value of Tests
chemical_list: D014408:Biomarkers, Tumor; C501486:MLH1 protein, human; C094934:PMS2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1