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A Canadian Provincial Screening Program for Lynch Syndrome.
Stone, James K; Winter, Remington; Khan, Deirdre; Rothenmund, Heidi; Klein, Julianne; Chodirker, Bernard; Wightman, Robert; Kim, Christina A; Nugent, Zoann; Singh, Harminder.
Afiliação
  • Stone JK; Department of Internal Medicine, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Winter R; Department of Internal Medicine, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Khan D; CancerCare Manitoba Research Institute, Winnipeg, Manitoba, Canada.
  • Rothenmund H; Program of Genetics and Metabolism, Shared Health, Winnipeg, MB, Canada.
  • Klein J; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
  • Chodirker B; Department of Pathology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
  • Wightman R; Program of Genetics and Metabolism, Shared Health, Winnipeg, MB, Canada.
  • Kim CA; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
  • Nugent Z; Department of Pathology, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada.
  • Singh H; Department of Internal Medicine, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Am J Gastroenterol ; 118(2): 345-353, 2023 02 01.
Article em En | MEDLINE | ID: mdl-36219179
INTRODUCTION: Manitoba implemented the first Canadian provincial program of reflex screening through mismatch repair immunohistochemistry (MMR-IHC) for all colorectal cancers diagnosed at age 70 years or younger in December 2017. We evaluated compliance to universal reflex testing and for referrals to Genetics for individuals with MMR-deficient tumors. METHODS: We searched the provincial pathology database with "adenocarcinoma" in the colorectal specimen pathology reports between March 2018 and December 2020. We cross-referenced with paper and electronic records in the Program of Genetics and Metabolism to determine whether patients with MMR-deficient tumors had been referred for Genetic assessment and what proportion of patients and first-degree relatives accepted an appointment and genetic testing. We performed logistic regression analysis to identify predictors of testing. RESULTS: We identified 3,146 colorectal adenocarcinoma specimens (biopsies and surgical resections) from 1,692 unique individuals (mean age 68.66 years, male 57%). Of those aged 70 years or younger (n = 936), 89.4% received MMR-IHC screening. Individual pathologists (categorized by the highest, average, and lowest screening rates) were the biggest predictors of MMR-IHC screening on multivariable analysis (highest vs lowest: odds ratio 17.5, 95% confidence interval 6.05-50.67). While only 53.4% (n = 31) of 58 screen-positive cases were referred by pathologists for genetic assessment, other clinicians referred an additional 22.4% (n = 13), resulting in 75.8% overall referral rate of screen-positive cases. Thirteen (1.4%) patients (1.1%, aged 70 years or younger) were confirmed to experience Lynch syndrome through germline testing, and 8 first-degree relatives (an average of 1.6 per patient) underwent cascade genetic testing. DISCUSSION: The first Canadian Lynch syndrome screening program has achieved high rates of reflex testing.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Adenocarcinoma / Neoplasias Colorretais Hereditárias sem Polipose / Programas de Rastreamento Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Aged / Female / Humans / Male País/Região como assunto: America do norte Idioma: En Revista: Am J Gastroenterol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Canadá

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Adenocarcinoma / Neoplasias Colorretais Hereditárias sem Polipose / Programas de Rastreamento Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Aged / Female / Humans / Male País/Região como assunto: America do norte Idioma: En Revista: Am J Gastroenterol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Canadá