Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics

Autor:	Nils Rahner, Wilfried Roth, Florian Seidler, Julia Sieber-Frank, Elke Holinski-Feder, David Horst, Hendrik Bläker, Magnus von Knebel Doeberitz, Michael Hoffmeister, Claudia Perne, Monika Morak, Moritz von Winterfeld, Vincent Heuveline, Christoph Engel, Stefan Aretz, Hans-Konrad Schackert, Aysel Ahadova, Saskia Haupt, Alexander Arnold, Gabriela Möslein, Wolff Schmiegel, Jenny Chang-Claude, Jürgen Weitz, Deepak Vangala, Hermann Brenner, Markus Löffler, Robert Hüneburg, Verena Steinke-Lange, Matthias Kloor, Elizabeth Alwers
Rok vydání:	2020
Předmět:	Oncology Genetic Markers Male Proto-Oncogene Proteins B-raf congenital hereditary and neonatal diseases and abnormalities Cancer Research medicine.medical_specialty endocrine system diseases Colorectal cancer Genetic counseling Population Age dependent Sensitivity and Specificity 03 medical and health sciences 0302 clinical medicine Age groups Mutation Rate Internal medicine Medicine Humans skin and connective tissue diseases education neoplasms Early Detection of Cancer Aged education.field_of_study business.industry Age Factors Microsatellite instability Middle Aged medicine.disease Colorectal Neoplasms Hereditary Nonpolyposis digestive system diseases Lynch syndrome Amino Acid Substitution 030220 oncology & carcinogenesis Mutation testing Female Microsatellite Instability business
Zdroj:	International journal of cancerREFERENCES. 147(10)
ISSN:	1097-0215
Popis:	BRAF V600E mutations have been reported as a marker of sporadic microsatellite instability (MSI) colorectal cancer (CRC). Current international diagnostic guidelines recommend BRAF mutation testing in MSI CRC patients to predict low risk of Lynch syndrome (LS). We evaluated the age-specific performance of BRAF testing in LS diagnostics. We systematically compared the prevalence of BRAF mutations in LS-associated CRCs and unselected MSI CRCs in different age groups as available from published studies, databases and population-based patient cohorts. Sensitivity/specificity analysis of BRAF testing for exclusion of LS and cost calculations were performed. Among 969 MSI CRCs from LS carriers in the literature and German HNPCC Consortium, 15 (1.6%) harbored BRAF mutations. Six of seven LS patients with BRAF-mutant CRC and reported age were
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5cee46f47a9249c5ed433437a94cbca https://pubmed.ncbi.nlm.nih.gov/32875553 Zobrazit plný text záznamu Plný text