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14.02.2018 | Original Article

Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk

verfasst von: Allison H. West, Kathleen R. Blazer, Jessica Stoll, Matthew Jones, Caroline M. Weipert, Sarah M. Nielsen, Sonia S. Kupfer, Jeffrey N. Weitzel, Olufunmilayo I. Olopade

Erschienen in: Familial Cancer | Ausgabe 4/2018

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Abstract

Comprehensive genomic cancer risk assessment (GCRA) helps patients, family members, and providers make informed choices about cancer screening, surgical and chemotherapeutic risk reduction, and genetically targeted cancer therapies. The increasing availability of multigene panel tests for clinical applications allows testing of well-defined high-risk genes, as well as moderate-risk genes, for which the penetrance and spectrum of cancer risk are less well characterized. Moderate-risk genes are defined as genes that, when altered by a pathogenic variant, confer a 2 to fivefold relative risk of cancer. Two such genes included on many comprehensive cancer panels are the DNA repair genes ATM and CHEK2, best known for moderately increased risk of breast cancer development. However, the impact of screening and preventative interventions and spectrum of cancer risk beyond breast cancer associated with ATM and/or CHEK2 variants remain less well characterized. We convened a large, multidisciplinary, cross-sectional panel of GCRA clinicians to review challenging, peer-submitted cases of patients identified with ATM or CHEK2 variants. This paper summarizes the inter-professional case discussion and recommendations generated during the session, the level of concordance with respect to recommendations between the academic and community clinician participants for each case, and potential barriers to implementing recommended care in various practice settings.

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Titel: Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk
verfasst von: Allison H. West
Kathleen R. Blazer
Jessica Stoll
Matthew Jones
Caroline M. Weipert
Sarah M. Nielsen
Sonia S. Kupfer
Jeffrey N. Weitzel
Olufunmilayo I. Olopade
Publikationsdatum: 14.02.2018
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 4/2018
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-018-0070-x

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Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk

Abstract

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