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| Verfasst von: | Bläker, Hendrik [VerfasserIn]  |
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| | Haupt, Saskia [VerfasserIn] |
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| | Sieber-Frank, Julia [VerfasserIn] |
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| | Seidler, Florian [VerfasserIn] |
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| | Winterfeld, Moritz von [VerfasserIn] |
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| | Alwers, Elizabeth [VerfasserIn] |
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| | Chang-Claude, Jenny [VerfasserIn] |
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| | Brenner, Hermann [VerfasserIn] |
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| | Heuveline, Vincent [VerfasserIn] |
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| | Knebel Doeberitz, Magnus von [VerfasserIn] |
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| | Ahadova, Aysel [VerfasserIn] |
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| | Hoffmeister, Michael [VerfasserIn] |
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| | Kloor, Matthias [VerfasserIn] |
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| Titel: | Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics |
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| Verf.angabe: | Hendrik Bläker, Saskia Haupt, Monika Morak, Elke Holinski‐Feder, Alexander Arnold, David Horst, Julia Sieber‐Frank, Florian Seidler, Moritz von Winterfeld, Elizabeth Alwers, Jenny Chang‐Claude, Hermann Brenner, Wilfried Roth, Christoph Engel, Markus Löffler, Gabriela Möslein, Hans-Konrad Schackert, Jürgen Weitz, Claudia Perne, Stefan Aretz, Robert Hüneburg, Wolff Schmiegel, Deepak Vangala, Nils Rahner, Verena Steinke‐Lange, Vincent Heuveline, Magnus von Knebel Doeberitz, Aysel Ahadova, Michael Hoffmeister, Matthias Kloor, The German Consortium for Familial Intestinal Cancer |
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| E-Jahr: | 2020 |
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| Jahr: | 01 September 2020 |
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| Umfang: | 10 S. |
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| Fussnoten: | Gesehen am 04.02.2021 |
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| Titel Quelle: | Enthalten in: International journal of cancer |
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| Ort Quelle: | Bognor Regis : Wiley-Liss, 1966 |
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| Jahr Quelle: | 2020 |
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| Band/Heft Quelle: | 147(2020), 10, Seite 2801-2810 |
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| ISSN Quelle: | 1097-0215 |
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| Abstract: | 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 <50 years. Among 339 of 756 (44.8%) of BRAF mutations detected in unselected MSI CRC, only 2 of 339 (0.6%) BRAF mutations were detected in patients <50 years. The inclusion of BRAF testing led to high risk of missing LS patients and increased costs at age <50 years. BRAF testing in patients <50 years carries a high risk of missing a hereditary cancer predisposition and is cost-inefficient. We suggest direct referral of MSI CRC patients <50 years to genetic counseling without BRAF testing. |
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| DOI: | doi:10.1002/ijc.33273 |
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| URL: | kostenfrei: Volltext ; Verlag: https://doi.org/https://doi.org/10.1002/ijc.33273 |
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| | kostenfrei: Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/ijc.33273 |
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| | DOI: https://doi.org/10.1002/ijc.33273 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | age |
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| | BRAF mutation testing |
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| | hereditary cancer syndrome |
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| | Lynch syndrome diagnostics |
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| | microsatellite instability colorectal cancer |
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| K10plus-PPN: | 174740361X |
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| Verknüpfungen: | → Zeitschrift |
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| Lokale URL UB: |  Zum Volltext |
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Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics / Bläker, Hendrik [VerfasserIn]; 01 September 2020 (Online-Ressource)
