Prevalência de critérios clínicos para síndrome de Lynch em pacientes com diagnóstico de cancer colorretal atendidos no HUSM

• Ano de defesa: 2018
• Autor(a) principal: Stefanon, Lauren Razzera
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de Santa Maria; Brasil; Medicina; UFSM; Programa de Pós-Graduação em Ciências da Saúde; Centro de Ciências da Saúde
• Palavras-chave em Português: Síndrome de Lynch; Critérios de Bethesda; Neoplasia colorretal; PREMM5; História familiar; Lynch syndrome; Bethesda criteria; Colorectal cancer; History familiy; CNPQ::CIENCIAS DA SAUDE::MEDICINA
• Link de acesso: http://repositorio.ufsm.br/handle/1/14739

Lynch Syndrome (SL) is responsible for 3 to 5% of colorectal cancer diagnoses. This syndrome of predisposition to cancer presents autosomal dominant inheritance and it is caused by deleterious germline mutations in genes responsible for correcting errors of DNA base pairing. Knowing the importance of identifying individuals with this syndrome as a way of preventing neoplasia, a prospective, descriptive cross - sectional study was conducted to recognize the prevalence of clinical criteria for SL in patients diagnosed with colorectal cancer treated at the Hospital Universitário de Santa Maria. The inclusion criteria were: diagnosis of colon or rectum cancer occurred in the year 2015 and 2016, age greater than 18 years. The data were collected through a questionnaire with patients, with questions regarding the family history of neoplasia and histopathological characteristics analyzed through anatomopathological diagnosis. Patients who met the Bethesda SL criteria were referred for further evaluation and screened for genetic alterations in mathematical prediction models such as PREMM5, available online. The statistical analysis was by descriptive analysis of the quantitative variables. In the present study, 135 patients were selected, of which 32% met the Bethesda criteria, data similar to the current literature. We can conclude from this study that clinical history is an important tool in identifying patients at risk for SL. It should be seen as a manner to suspect patients with genetic syndromes and as an opportunity to disseminate these diseases by providing greater knowledge in the medical field of these syndromes, however, exams such immunohistochemistry and microsatellite instability research should also be included in this research.