Journal Article

DKFZ-2020-01798

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.

Bläker, H. ; Haupt, S. ; Morak, M. ; Holinski-Feder, E. ; Arnold, A. ; Horst, D. ; Sieber-Frank, J.DKFZ* ; Seidler, F.DKFZ* ; von Winterfeld, M. ; Alwers, E.DKFZ* ; Chang-Claude, J.DKFZ* ; Brenner, H.DKFZ* ; Roth, W. ; Engel, C. ; Löffler, M. ; Möslein, G. ; Schackert, H.-K. ; Weitz, J. ; Perne, C. ; Aretz, S. ; Hüneburg, R. ; Schmiegel, W. ; Vangala, D. ; Rahner, N. ; Steinke-Lange, V. ; Heuveline, V. ; von Knebel Doeberitz, M.DKFZ* ; Ahadova, A.DKFZ* ; Hoffmeister, M.DKFZ* ; Kloor, M. (Last author)DKFZ* ; Cancer, G. C. f. F. I. (Collaboration Author)

2020
Wiley-Liss Bognor Regis

This record in other databases:  

Please use a persistent id in citations: doi:10.1002/ijc.33273

Abstract: BRAF V600E mutations have been reported as a marker of sporadic microsatellite-unstable (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. 6/7 LS patients with BRAF-mutant CRC and reported age were < 50 years. Among 339/756 (44.8%) of BRAF mutations detected in unselected MSI CRC, only 2/339 (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 counselling without BRAF testing. This article is protected by copyright. All rights reserved.

Note: 2020 Nov 15;147(10):2801-2810 / #LA:F210#

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Contributing Institute(s):

1. KKE Angewandte Tumorbiologie (F210)
2. C070 Klinische Epidemiologie und Alternf. (C070)
3. C020 Epidemiologie von Krebs (C020)
4. Präventive Onkologie (C120)
5. DKTK HD zentral (HD01)

Research Program(s):

1. 316 - Infections and cancer (POF3-316) (POF3-316)

Appears in the scientific report 2020

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; DEAL Wiley ; Essential Science Indicators ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; Nationallizenz ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Web of Science Core Collection

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