title: Detection of DNA repair protein in colorectal cancer of patients up to 50 years old can increase the identification of Lynch syndrome?
abstract: The aim of this study was to compare the results of protein level of the DNA mismatch repair genes with the clinical diagnosis of Lynch syndrome according to the Amsterdam II criteria in patients 50 years and younger who underwent surgery for colorectal cancer. The subjects of analysis were 48 patients 50 years old and younger. Immunohistochemistry assays were performed to detect proteins from the DNA mismatch repair genes. Clinicopathological data and Amsterdam II criteria for the diagnosis of hereditary nonpolyposis colorectal cancer were obtained by analyzing medical records. Two (4 %) patients satisfied the Amsterdam II criteria for Lynch syndrome, and both presented levels of all of the studied mismatch repair proteins. A total of 13 (27 %) patients exhibited the absence of protein levels of the studied mismatch repair genes. None of these patients were considered suspicious for Lynch syndrome according to the Amsterdam II criteria. Screening for the level of proteins of the mismatch repair system in all colorectal cancer patients 50 years and younger can increase the identification of patients with suspicion of Lynch syndrome.
authors.affiliation: Department of Surgery, São Paulo State Civil Servant Hospital, Rua Augusto de Miranda, 1303 ap. 22 Pompéia, São Paulo, SP, 05026-001, Brazil. demetriusgermini@hotmail.com.
authors.forename: Demétrius Eduardo
authors.initials: DE
authors.lastname: Germini
authors.affiliation: Department of Pathology, ABC Medical School, Avenida Príncipe de Gales, 821, Santo André, SP, 09080-650, Brazil.
authors.forename: Ana Maria Amaral Antônio
authors.initials: AM
authors.lastname: Mader
authors.affiliation: Department of Surgery, ABC Medical School, Avenida Príncipe de Gales, 821, Santo André, SP, 09080-650, Brazil.
authors.forename: Luiz Guilherme Lisboa
authors.initials: LG
authors.lastname: Gomes
authors.affiliation: Department of Morphology, ABC Medical School, Avenida Príncipe de Gales, 821, 09080650, Santo André, SP, Brazil.
authors.forename: Thérèse Rachel
authors.initials: TR
authors.lastname: Teodoro
authors.affiliation: Department of Pathology, São Paulo State Civil Servant Hospital, Avenida Ibirapuera, 981, São Paulo, SP, 04029-000, Brazil.
authors.forename: Maria Isete Fares
authors.initials: MI
authors.lastname: Franco
authors.affiliation: Department of Surgery, ABC Medical School, Avenida Príncipe de Gales, 821, Santo André, SP, 09080-650, Brazil.
authors.forename: Jaques
authors.initials: J
authors.lastname: Waisberg
mesh_terms: D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000473:pathology*; D053843:DNA Mismatch Repair / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins
keywords: Colorectal neoplasms; DNA mismatch repair; Hereditary nonpolyposis; Immunohistochemistry; Lynch syndrome; MutS DNA mismatch-binding protein